Pular para o conteúdo
Síndrome de X-frágil
ORPHA:908CID-10 · Q99.2CID-11 · LD55OMIM 300624DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
heartInício neonatalHerança XL/XLD
Também conhecida comoSíndrome do x fragilSíndrome do cromossomo X frágilSíndrome de FraXFXSFMR1FRAXA
Sinônimos clínicos: Síndrome de FraX

Síndrome genética causada por mutações no gene FMR1, responsável pela expressão da proteína X frágil de retardo mental 1. Esta proteína participa do desenvolvimento neural. Esta síndrome se manifesta com deficiências mentais, emocionais, comportamentais, físicas e de aprendizagem.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A síndrome do X frágil é uma condição genética que causa uma variedade de problemas de desenvolvimento, incluindo dificuldades de aprendizagem e comprometimento cognitivo. Normalmente, os homens são mais gravemente afetados por esse distúrbio do que as mulheres.

As pessoas com a condição geralmente apresentam atraso no desenvolvimento da fala e da linguagem até os dois anos de idade. A maioria dos homens com síndrome do X frágil tem deficiência intelectual leve a moderada, enquanto cerca de um terço das mulheres afetadas tem deficiência intelectual. Crianças com síndrome do X frágil também podem apresentar ansiedade e comportamento hiperativo, como agitação ou ações impulsivas. Elas podem ter transtorno de déficit de atenção (ADD), que inclui uma capacidade prejudicada de manter a atenção e dificuldade em concentrar‑se em tarefas específicas. Cerca de um terço das pessoas com síndrome do X frágil apresentam características do transtorno do espectro autista que afetam a comunicação e a interação social. Convulsões ocorrem em cerca de 15 % dos homens e cerca de 5 % das mulheres com síndrome do X frágil.

A maioria dos homens e cerca de metade das mulheres com síndrome do X frágil apresentam características físicas típicas que se tornam mais evidentes com a idade. Essas características incluem um rosto longo e estreito, orelhas grandes, mandíbula e testa proeminentes, dedos incomumente flexíveis, pés chatos e, nos homens, testículos aumentados (macroorquidismo) após a puberdade.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

Síndrome genética causada por mutações no gene FMR1, responsável pela expressão da proteína X frágil de retardo mental 1. Esta proteína participa do desenvolvimento neural. Esta síndrome se manifesta com deficiências mentais, emocionais, comportamentais, físicas e de aprendizagem.

Pesquisas ativas
23 ensaios
111 total registrados no ClinicalTrials.gov
Publicações científicas
6.117 artigos
Último publicado: 2026 Apr 11

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
32.5
Worldwide
Início
Childhood
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 35%
5 procedimentos SIGTAPCID-10: Q99.2
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
•
Dosagem de alfa-fetoproteína
•
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
8 sintomas
😀
Face
5 sintomas
🦴
Ossos e articulações
4 sintomas
❤️
Coração
3 sintomas
🫃
Digestivo
2 sintomas
👁️
Olhos
2 sintomas

+ 21 sintomas em outras categorias

Características mais comuns

100%prev.
Deficiência intelectual, moderada
Frequência: 13/13
90%prev.
Pé plano
Muito frequente (99-80%)
90%prev.
Macroorquidismo
Muito frequente (99-80%)
90%prev.
Sítio frágil dependente de folato em Xq28
Muito frequente (99-80%)
90%prev.
Hipermobilidade articular
Muito frequente (99-80%)
90%prev.
Otite média crônica
Muito frequente (99-80%)
47sintomas
Muito frequente (7)
Frequente (20)
Ocasional (11)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 47 características clínicas mais associadas, ordenadas por frequência.

Deficiência intelectual, moderadaIntellectual disability, moderate
Frequência: 13/13100%
Pé planoPes planus
Muito frequente (99-80%)90%
MacroorquidismoMacroorchidism
Muito frequente (99-80%)90%
Sítio frágil dependente de folato em Xq28Folate-dependent fragile site at Xq28
Muito frequente (99-80%)90%
Hipermobilidade articularJoint hypermobility
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico6.117PubMed
Últimos 10 anos200publicações
Pico2025144 papers
Linha do tempo
2026Hoje · 2026🧪 2001Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: X-linked dominant.

Curadoria gene-doença

fontes oficiais
FMR1
FMR1
FMR1Fragile X messenger ribonucleoprotein 1Disease-causing germline mutation(s) (loss of function) inAltamente restrito
VIAS BIOLÓGICAS (5)
FCGR3A-mediated phagocytosisRHO GTPases Activate WASPs and WAVEsRegulation of actin dynamics for phagocytic cup formationVEGFA-VEGFR2 PathwayRAC1 GTPase cycle
MECANISMO DE DOENÇA

Fragile X syndrome

An X-linked dominant disease characterized by moderate to severe intellectual disability, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
39.4 TPM
Ovário
32.4 TPM
Tireoide
31.7 TPM
Nervo tibial
30.4 TPM
Cerebelo
29.7 TPM
OUTRAS DOENÇAS (4)
premature ovarian failure 1fragile X syndromefragile X-associated tremor/ataxia syndromeXq27.3q28 duplication syndrome
HGNC:3775UniProt:Q06787

Variantes genéticas (ClinVar)

272 variantes patogênicas registradas no ClinVar.

🧬 FMR1: GRCh38/hg38 Xq26.3-28(chrX:137491159-155700385)x2 ()
🧬 FMR1: NM_002024.6(FMR1):c.574C>A (p.Leu192Met) ()
🧬 FMR1: NM_002024.6(FMR1):c.995T>C (p.Ile332Thr) ()
🧬 FMR1: GRCh37/hg19 Xq23-28(chrX:113417246-155233731)x1 ()
🧬 FMR1: NM_002024.6(FMR1):c.590C>G (p.Ser197Cys) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 36 variantes classificadas pelo ClinVar.

14
18
4
Patogênica (38.9%)
VUS (50.0%)
Benigna (11.1%)
VARIANTES MAIS SIGNIFICATIVAS
FMR1: NM_002024.6(FMR1):c.1276-1202G>A [Likely pathogenic]
FMR1: NM_002024.6(FMR1):c.498_500del (p.Tyr166_Gln167delinsTer) [Likely pathogenic]
FMR1: NM_002024.6(FMR1):c.210_211dup (p.Ala71fs) [Pathogenic]
FMR1: NM_002024.6(FMR1):c.1375A>T (p.Lys459Ter) [Pathogenic]
FMR1: NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln) [Conflicting classifications of pathogenicity]

Vias biológicas (Reactome)

6 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado4
3Fase 311
2Fase 238
1Fase 112
·Pré-clínico35
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 100 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de X-frágil

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de X-frágil

Centros para Síndrome de X-frágil

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 7 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

16 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07434037 · The Neurocognitive Bases of Trust in Intellectual DisabilityRecrutando
🇫🇷 França
NCT07654114 · Safety, Tolerability, and Preliminary Effectiveness of CTH12…Recrutando
PHASE2🇪🇸 Espanha
NCT06868979 · Optical Imaging in X-linked Disorders.Recrutando
NA🇫🇷 França
NCT07209462 · Study of MRM-3379 in Male Participants With Fragile X Syndro…Recrutando
PHASE2🇪🇸 Espanha · 🇺🇸 Estados Unidos
NCT06261502 · Effect of CANnabidiol on Anxiety and GABAergic Function in I…Recrutando
PHASE2🇨🇦 Canadá
NCT06740162 · Physical Activity and Community EmPOWERment ProjectRecrutando
NA🇺🇸 Estados Unidos
NCT06147414 · Development of Non-Invasive Prenatal Diagnosis for Single Ge…Recrutando
🇫🇷 França
NCT06081348 · Sertraline vs. Placebo in the Treatment of Anxiety in Childr…Recrutando
PHASE2🇨🇦 Canadá
NCT06088589 · Speech-in-noise Perception in Autism and Fragile XRecrutando
NA🇺🇸 Estados Unidos
NCT06227780 · Alpha Auditory Entrainment for Cognitive Enhancement and Sen…Recrutando
NA🇺🇸 Estados Unidos
NCT06560242 · Tracking Early Emergence of Sound Perception Impairments in …Recrutando
NA🇺🇸 Estados Unidos
NCT05957549 · Tracking Early Emergence of Sound Perception Impairments in …Recrutando
NA🇺🇸 Estados Unidos
NCT06677866 · Group CBT in Adolescents With Fragile X Syndrome and in Adol…Recrutando
NA🇮🇹 Itália
NCT00768820 · The Psychiatric and Cognitive Phenotypes in Velocardiofacial…Recrutando
PHASE4🇮🇱 Israel
NCT05301361 · Sensitivity of the NIH Toolbox to Stimulant Treatment in Int…Por convite
PHASE1🇺🇸 Estados Unidos
NCT03836300 · Parent and Infant Inter(X)Action Intervention (PIXI)Por convite
NA🇺🇸 Estados Unidos

Outros ensaios clínicos

111 ensaios clínicos encontrados, 23 ativos.

Distribuição por fase
NCT07439510 · A Study to Investigate the Effects and Safety of Codabakalne…Em breve
PHASE2, PHASE3
NCT07328529 · Inhibition of Aggressive Behavior in Participants With Fragi…Em breve
PHASE2🇺🇸 Estados Unidos
NCT06261450 · Effect of CBD on the BrainEm breve
PHASE2
NCT06139172 · Web Intervention for Parents of Youth With Genetic Syndromes…Ativo
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NCT05418049 · Evaluating the Neurophysiologic and Clinical Effects of Sing…Ativo
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NCT03802799 · Open Label Extension to Assess the Long-Term Safety and Tole…Ativo
PHASE2, PHASE3🇦🇺 Austrália · New Zealand · 🇬🇧 Reino Unido +1
NCT06957054 · Neural Biomarkers in Fragile X SyndromeConcluído
🇪🇸 Espanha
NCT06413537 · Study of SPG601 in Adult Men With Fragile X SyndromeConcluído
PHASE2🇺🇸 Estados Unidos
NCT06334419 · Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol…Concluído
PHASE2🇺🇸 Estados Unidos
NCT06480968 · CTH120 First-in-Human Study: Single and Multiple Ascending D…Concluído
PHASE1🇪🇸 Espanha
NCT05358886 · A Study of BPN14770 in Male Adults (Aged 18 to 45) With Frag…Concluído
PHASE3🇺🇸 Estados Unidos
NCT05163808 · A Randomized Study of BPN14770 in Male Adolescents (Aged 9 t…Concluído
PHASE2, PHASE3🇺🇸 Estados Unidos
NCT05120505 · Metformin in Children With Fragile X SyndromeConcluído
PHASE4🇨🇳 China
NCT05030129 · ERG/5-HTP in Fragile X Syndrome (FXS)Concluído
PHASE2🇺🇸 Estados Unidos
NCT04977986 · Clinical Study of Cannabidiol in Children, Adolescents, and …Concluído
PHASE3🇦🇺 Austrália · 🇮🇪 Irlanda · New Zealand +2
NCT03862950 · A Trial of Metformin in Individuals With Fragile X Syndrome …Concluído
PHASE2🇨🇦 Canadá
NCT03697161 · A Study of OV101 in Individuals With Fragile X SyndromeConcluído
PHASE2🇺🇸 Estados Unidos
NCT03722290 · Metformin in Children and Adults With Fragile X SyndromeConcluído
PHASE2🇨🇦 Canadá
NCT03569631 · A 2-Period Crossover Study of BPN14770 in Adults Males With …Concluído
PHASE2🇺🇸 Estados Unidos
NCT03614663 · Clinical Study Of caNNabidiol in childrEn and adolesCenTs Wi…Concluído
PHASE2, PHASE3🇦🇺 Austrália · New Zealand · 🇺🇸 Estados Unidos
NCT03479476 · A Trial of Metformin in Individuals With Fragile X SyndromeConcluído
PHASE2, PHASE3🇨🇦 Canadá · 🇺🇸 Estados Unidos
NCT03624556 · Pediatric Exploratory Research Study of EGCG Use and Safety …Concluído
NA🇪🇸 Espanha
NCT03140813 · An Initial Study of AZD7325 in Adults With Fragile X Syndrom…Concluído
PHASE1🇺🇸 Estados Unidos
NCT02920892 · AFQ056 for Language Learning in Children With FXSConcluído
PHASE2🇺🇸 Estados Unidos
NCT03087526 · NIPD on CFTC for Triplet Repeat DiseasesConcluído
NA🇫🇷 França
NCT03109756 · Single Dose Pharmacokinetic (PK) StudyConcluído
PHASE1🇺🇸 Estados Unidos
NCT02942498 · Clinical Trial for Asses the Safety and Efficacy of Vitamin …Concluído
PHASE3🇪🇸 Espanha
NCT03510156 · Treatment of Disruptive Behaviors in Fragile X SyndromeConcluído
NA🇺🇸 Estados Unidos
NCT02769949 · Pediatric Patients With Metabolic or Other Genetic DisordersConcluído
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NCT02719951 · Glutaminergic Transmission in Autism : Molecular Imaging Exp…Concluído
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NCT02465931 · Decisional Capacity and Informed Consent in Fragile X Syndro…Concluído
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NCT02680379 · Combined Treatment of Minocycline and Lovastatin to Treat In…Concluído
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NCT02747394 · Cognitive Training for Fragile X SyndromeConcluído
NA🇺🇸 Estados Unidos
NCT01725152 · Ganaxolone Treatment in Children With Fragile X SyndromeConcluído
PHASE2🇧🇪 Bélgica · 🇺🇸 Estados Unidos
NCT01517698 · A Study of RO4917523 in Patients With Fragile X SyndromeConcluído
PHASE2🇦🇷 Argentina · 🇨🇦 Canadá · 🇨🇱 Chile +7
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PHASE1🇪🇸 Espanha · 🇺🇸 Estados Unidos
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PHASE2🇫🇷 França · 🇮🇹 Itália · 🇨🇭 Suíça
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NCT00858689 · Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrom…Concluído
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NCT00420459 · A Prospective Open-label Study of Aripiprazole in Fragile X …Concluído
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NCT00220584 · An Open-Label Trial of Donepezil in Fragile X SyndromeConcluído
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Publicações mais relevantes

🥇Melhor nível de evidência: Ensaio randomizado
Timeline de publicações
2.643 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.643

#1

Local Translation in Glial Cells of the Brain.

Annual review of cell and developmental biology2026 Mar 16

Local protein synthesis is a conserved mechanism that allows cells with intricate architectures to perform compartment-specific functions. By translating messenger RNAs (mRNAs) at distinct subcellular locations, cells can respond swiftly and precisely to localized stimuli. This strategy is crucial in neurons, whose long processes extend far from the cell body. Disruptions in neuronal local translation have been implicated in neurological disorders, including fragile X syndrome, amyotrophic lateral sclerosis, and spinal muscular atrophy. While much of the spotlight has been on neurons, glial cells-microglia, astrocytes, oligodendrocytes, and radial glia-are increasingly recognized for their own dynamic use of local translation. These support cells exhibit asymmetric mRNA localization, suggesting that local protein synthesis plays key roles in their diverse functions. This review explores the emerging landscape of local translation in glial cells and examines how this finely tuned process contributes to both normal brain function and the development of neurological disease.

#2

Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.

iScience2026 Mar 20

Fragile X Syndrome (FXS), the most common inherited cause of intellectual disability and a leading monogenic cause of autism, arises from the loss of Fragile X Messenger Ribonucleoprotein (Fmr protein), leading to synaptic and cognitive dysfunction. Here, we demonstrate that the frequency-specific electrical stimulation of the medial septum/diagonal band of Broca (MSDB) can restore cognitive and synaptic impairments in Fmr1 knockout mice, a validated model of FXS. Thirty minutes of 35 Hz MSDB stimulation significantly improved subsequent recognition memory, sociability, spatial learning, and fear memory, with recognition memory enhancements persisting for up to 7 days after daily 30 min stimulations for 10 days. Electrophysiological recordings revealed that MSDB stimulation restored basal synaptic transmission and facilitation, and long-term potentiation in hippocampal CA1 neurons. These findings demonstrate that frequency-specific MSDB stimulation can re-engage dysfunctional hippocampal circuits and restore cognitive function in FXS, offering a promising non-pharmacological therapeutic strategy for neurodevelopmental disorders.

#3

Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 24

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and autism. One common physical feature of FXS is macrocephaly, a condition typically associated with brain overgrowth and dysfunction; however, the mechanisms underlying its occurrence are unclear. Here, we uncover a role for the fragile X messenger ribonucleoprotein (FMRP) in regulating tissue growth through the Minibrain (Mnb) kinase, also known as DYRK1A, a gene up-regulated in Down syndrome and mutated in a specific form of autism. Using fly models of FXS, we find that Drosophila FMRP (dFmrp) suppresses the translation of Mnb. Loss of dFmrp leads to the up-regulation of Mnb in the developing brain, resulting in macrocephaly and brain enlargement. We find that brain overgrowth begins early in development and can be suppressed with DYRK1A inhibitors. At the cellular level, the Mnb/DYRK1A signaling pathway drives brain enlargement by inducing both neuronal hypertrophy and excessive proliferation of neural progenitors. We further demonstrate that Mnb up-regulates protein synthesis, and reducing Mnb activity or disrupting essential translational machinery restores brain size and improves locomotor coordination in the Drosophila FXS model. These data suggest that dysregulation of the Mnb/DYRK1A signaling pathway contributes to brain overgrowth and aberrant protein synthesis in FXS. More broadly, our findings highlight that neurodevelopmental disorders such as FXS, Down syndrome, and autism share disruptions in common molecular pathways.

#4

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Nature communications2026 Feb 09

Predicting clinical therapeutic outcomes from animal studies using conserved electrophysiological phenotypes could facilitate developing treatments for neuropsychiatric disorders. Alpha oscillations in human resting-state electroencephalogram recordings are altered in many disorders, but whether these disruptions exist in mouse models is unknown. Here, we employed a uniform analytical method to show in males with fragile X syndrome (FXS) that alpha oscillations in humans and alpha-like oscillations in the visual cortex of Fmr1-/y mice are slowed, with a stronger phenotype in adults than juveniles and a juvenile-specific power phenotype in both species. We find that alpha-like oscillations are disrupted by deletion of Fmr1 in cortical excitatory neurons and glia, reflect differential activity of two classes of GABAergic interneurons, and are more sensitive to activation of GABAB receptors by Arbaclofen in wild-type than Fmr1-/y mice. Our framework reveals evolutionary conservation of alpha oscillation disruptions, enables a deeper understanding of FXS pathophysiology, and narrows the gap between treatment promise and practice.

#5

Olfactory Deficits in Fragile X Syndrome.

The European journal of neuroscience2026 Jan

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and a major genetic cause of autism spectrum disorders (ASDs). It results from the loss of fragile X mental retardation protein (FMRP), an mRNA-binding protein critical for synaptic development and plasticity. Although sensory processing abnormalities are well recognized in FXS, the olfactory system remains relatively underexplored in both human and animal studies. Evidence from rodent and drosophila models reveals that FMRP loss profoundly alters olfactory circuitry and function. In Fmr1 knockout mice, aberrant mitral cell dendritic morphology and increased granule cell spine density disrupt excitation/inhibition (E/I) balance, leading to circuit hyperexcitability and impaired odor discrimination. Similarly, dfmr1-deficient flies show reduced GABAergic inhibition, broadened odor tuning, and altered odor-guided behaviors, reflecting conserved mechanisms of synaptic dysregulation. These findings parallel disruptions seen in other sensory systems, underscoring the olfactory bulb as a microcircuit model for studying FXS-related neural dysfunction. Human evidence remains limited, but studies in ASD suggest that structural alterations in the olfactory bulb and prefrontal cortex may contribute to sensory deficits in FXS. Integrating findings across species, this review highlights the olfactory system as a translational framework for linking molecular dysfunction to circuit-level and behavioral abnormalities. By focusing on this well-characterized sensory network, it emphasizes how early synaptic and structural disruptions in FXS give rise to E/I imbalance and sensory processing impairments, providing insights into broader neurodevelopmental mechanisms and potential therapeutic targets.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC3.193 artigos no totalmostrando 196

2026

The selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

Electroencephalography signals in a female Fragile X Syndrome mouse model.

NeuroImage
2026

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome.

Neurobiology of disease
2026

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2026

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Local Translation in Glial Cells of the Brain.

Annual review of cell and developmental biology
2026

Factors associated with social participation among children with fragile X syndrome.

Disability and health journal
2026

The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

Psychopharmacology bulletin
2026

Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.

iScience
2026

Unraveling the mechanisms of slack channel mutations in epileptic disorders.

Acta epileptologica
2026

Elevated gamma spectral event peak power during auditory chirp is associated with neuropsychiatric features in Fragile X syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2026

Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice.

Open biology
2026

Foundations of an Ovine Model of Fragile X Syndrome.

Genes
2026

Cannabinoid Therapies in Less-Common Disorders: Clinical Evidence and Formulation Strategies.

Diseases (Basel, Switzerland)
2026

Allele-specific alternative polyadenylation links noncoding genetic variation to Alzheimer's disease risk.

bioRxiv : the preprint server for biology
2025

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

La Tunisie medicale
2026

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

Research in developmental disabilities
2026

Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.

Proceedings of the National Academy of Sciences of the United States of America
2026

Psilocybin improves novel object recognition in a rat model of Fragile X Syndrome through the modulation of the BDNF/TrkB signaling pathway.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2026

Bioisostere-Driven Discovery of SePP: A Selenium-Containing Polypharmacological Agent Relevant to Fragile X Syndrome.

Journal of medicinal chemistry
2026

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Nature communications
2026

Alpha oscillations are dysrhythmic in Fragile X syndrome.

bioRxiv : the preprint server for biology
2026

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.

Autism research : official journal of the International Society for Autism Research
2026

GABAB Receptor signaling in CA1 Pyramidal Cells is not Regulated by Aging in the APP/PS1 Mouse Model of Amyloid Pathology.

eNeuro
2026

Hippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.

Neurobiology of disease
2025

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.

Frontiers in neuroscience
2026

Targeting autophagy for postsynaptic organization and cognitive rescue in Fragile X syndrome.

Neural regeneration research
2026

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.

Neurobiology of disease
2026

FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus.

NAR molecular medicine
2025

Elevated somatostatin interneuron long-term potentiation minimally regulates temporoammonic plasticity in a mouse model of Fragile X Syndrome.

Frontiers in pharmacology
2026

Olfactory Deficits in Fragile X Syndrome.

The European journal of neuroscience
2026

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.

Cell reports
2026

Cognitive dysfunction in women with the FMR1 premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education.

Journal of Alzheimer's disease : JAD
2026

From Concerns to Care: Understanding Parental Priorities and Access to Early Intervention for Infants With Fragile X Syndrome.

Journal of intellectual disability research : JIDR
2025

Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.

Review journal of autism and developmental disorders
2026

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.

PloS one
2026

Screening of CGG Trinucleotide Repeats Within FMR1 Gene in Bangladeshi Children With Autism Spectrum Disorder: Exploring a Possible Link With Fragile X Syndrome.

Journal of the Korean Academy of Child and Adolescent Psychiatry
2026

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.

Nature communications
2026

Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.

Developmental science
2026

Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.

Scientific reports
2026

Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.

Physiology &amp; behavior
2026

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.

Brain research bulletin
2025

FMRP restoration in parvalbumin interneurons: A circuit-specific improvement of visual learning in fragile X syndrome.

iScience
2025

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.

Journal of neurodevelopmental disorders
2026

Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome.

Neuroscience
2025

Expanding the spectrum of AFF2 undifferentiated sarcoma associated to endometriosis: a novel ZDHHC9::AFF2 fusion sarcoma with high-grade features and poor prognosis.

Pathologica
2026

Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.

Neurobiology of disease
2025

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Human genomics
2026

The impact of individual factors on linguistic alignment of autistic boys and their mothers.

Autism : the international journal of research and practice
2026

Early postsynaptic potentiation in hippocampal somatostatin interneurons is mTORC1-dependent and disrupted in Fmr1-/y mice.

Neuroscience
2026

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.

Autism research : official journal of the International Society for Autism Research
2026

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

Annals of clinical and translational neurology
2025

Detection of FMR1 CGG Repeat Expansions Using Buccal Swab and Blood Samples of Children With Intellectual Disability in A Resource-Limited Country.

Journal, genetic engineering &amp; biotechnology
2026

Uncovering novel endocannabinoidome-gut microbiome-brain axis-based therapeutic targets in a Fragile X Syndrome mouse model.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome.

Stem cell research
2025

IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats.

Nature communications
2025

Introducing the kollaR package: A user-friendly open-access solution for eye-tracking analysis and visualization.

Behavior research methods
2025

Microbiome modulation and behavioural improvements in children with fragile X syndrome following probiotic intake: A pilot study.

Scientific reports
2025

iTBS Improves Behavioral Abnormalities and Synaptic Defects in Fmr1 KO Rats by Regulating the Autophagy Pathway.

Molecular neurobiology
2025

Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.

Cureus
2025

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Frontiers in psychology
2025

Regulatory Functions of TDP-43 and FMRP in Non-Neuronal Diseases: Are Co-Targeted mRNAs the Keys?

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Cell-intrinsic mechanisms underlying spontaneous activity in the mouse visual cortical slice: implications for fragile X pathophysiology.

Journal of neurophysiology
2025

Delayed onset of striatal projection neuron hyperexcitability in Fmr1-/y mice.

Frontiers in cellular neuroscience
2025

Evidence of spontaneous mentalizing in children with Cornelia de Lange and fragile X syndromes, but not autistic children.

Oxford open neuroscience
2025

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Genes
2025

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.

Scientific reports
2025

Disrupted theta synchronization and synaptic connectivity in the visual cortex of Fmr1 KO mice.

Nature communications
2025

Effects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.

Molecular autism
2025

Atypical Inter-Brain Synchrony and Social Communication Deficits in Girls with Fragile X Syndrome: Evidence from Functional Near-infrared Spectroscopy Hyperscanning.

Research square
2025

Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.

bioRxiv : the preprint server for biology
2025

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.

bioRxiv : the preprint server for biology
2025

A rapid and dynamic role for FMRP in the plasticity of adult neurons.

Nature communications
2026

Enhanced CB1 receptor function in GABAergic neurons mediates hyperexcitability and impaired sensory-driven synchrony of cortical circuits in Fragile X Syndrome model mice.

Molecular psychiatry
2025

Early Pragmatic Communication in Autism and Fragile X Syndrome.

Journal of speech, language, and hearing research : JSLHR
2025

Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.

Translational psychiatry
2025

Long-term safety and tolerability of transdermal cannabidiol gel in children and adolescents with Fragile X syndrome (ZYN2-CL-017): an interim analysis of an ongoing open-label extension study.

Journal of neurodevelopmental disorders
2025

RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.

Frontiers in molecular biosciences
2025

Harnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.

Journal of translational medicine
2026

Age-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.

Molecular psychiatry
2025

Exploring the impact of metformin on the central nervous system and neurotransmission: A systematic review.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.

Journal of assisted reproduction and genetics
2025

Gene Therapy for Fragile X Syndrome, Challenges, and Promises.

The journal of gene medicine
2025

From Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders.

Journal of neurochemistry
2025

KCNT1 (Slack/Slo2.2) and KCNT2 (Slick/Slo2.1) Dysregulation in Intellectual Disability and Behavioral Phenotypes: A Systematic Review.

Cureus
2025

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS).

Medicine
2025

Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models.

Molecular autism
2025

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Molecular autism
2026

Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis.

The Journal of molecular diagnostics : JMD
2025

The Emerging Role of Phosphodiesterase Inhibitors in Fragile X Syndrome and Autism Spectrum Disorder.

Pharmaceuticals (Basel, Switzerland)
2025

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations.

International journal of molecular sciences
2025

Extracellular Vesicles-Dependent Secretion Regulates Intracellular CYFIP2 Protein Homeostasis in Cortical Neurons.

Biomedicines
2025

FMR1 Premutation Carrier Mothers' Daily Negative Affect and Cortisol: Probing the Impacts of Stress Exposure, Coping Style, and CGG Repeats.

American journal on intellectual and developmental disabilities
2025

Relationship Between Intellectual Disability and Behavioral Comorbidity in Children With Fragile X Syndrome.

Journal of autism and developmental disorders
2025

Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development.

Journal of autism and developmental disorders
2025

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

European journal of human genetics : EJHG
2025

Comparing loss of individual fragile X proteins suggests strong links to cellular senescence and aging.

Cellular and molecular life sciences : CMLS
2025

Behavioral benefits of GSK-3β inhibition and state-dependent microtubule signatures in the Fmr1-KO mouse.

Frontiers in neuroscience
2025

Combined Treatment with Minocycline and an mGluR5 Antagonist Alters Resting EEG Spectral Power, but Not Sound-Evoked Responses, in a Mouse Model of Fragile X Syndrome.

ASN neuro
2026

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

Journal of human genetics
2025

Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches.

Frontiers in pediatrics
2025

CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.

Science translational medicine
2025

Associations Between Altered Auditory EEG Markers and Clinical Impairments in Fragile X Syndrome.

Journal of autism and developmental disorders
2025

Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome.

Frontiers in psychiatry
2026

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

European journal of human genetics : EJHG
2025

Altering rRNA 2'O-methylation pattern during neuronal differentiation is regulated by FMRP.

RNA biology
2025

Serum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May Benefit Clinical Therapy Development.

International journal of general medicine
2025

Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.

Human molecular genetics
2025

Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.

Obesity facts
2025

Psychiatric Condition Management in Primary Care for Adults with Intellectual and Developmental Disabilities.

Southern medical journal
2025

Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome.

Molecular autism
2025

Repurposing Nitazoxanide to target the expanded r(CGG)n repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome.

International journal of biological macromolecules
2025

FX ENTRAIN: scientific context, study design, and biomarker driven brain-computer interfaces in neurodevelopmental conditions.

Frontiers in neuroscience
2025

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.

Orphanet journal of rare diseases
2025

Clinical, Genetic and Molecular Divergences Between Full Mutation and Premutation in Fragile X Syndrome: A Systematic Review.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.

Frontiers in molecular neuroscience
2025

Impaired thalamic burst firing in fragile X syndrome.

Cell reports
2025

CA2 neurons show abnormal responses to social stimuli in a rat model of Fragile X syndrome.

bioRxiv : the preprint server for biology
2025

Morphogen-guided neocortical organoids recapitulate regional areal identity and model neurodevelopmental disorder pathology.

bioRxiv : the preprint server for biology
2025

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.

World journal of pediatrics : WJP
2026

Autophagy controls the hippocampal postsynaptic organization and affects cognition in a mouse model of Fragile X syndrome.

Molecular psychiatry
2025

Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of fragile X syndrome.

eLife
2025

FMR1 mutant marmosets show fragile X syndrome phenotypes.

Cell reports
2025

Exaggerated NMDA Receptor-Primed Metaplasticity via SK Channel Dysregulation in Fmr1 Knockout Mice.

bioRxiv : the preprint server for biology
2026

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons.

Experimental physiology
2025

Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view.

Journal of neurodevelopmental disorders
2025

A survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.

Epilepsy &amp; behavior : E&amp;B
2025

Learning impairments in Fmr1-/- mice on an audio-visual temporal pattern discrimination task.

Journal of neurodevelopmental disorders
2025

ROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers.

Translational psychiatry
2025

FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations.

Genes
2025

Severe Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.

Genes
2025

Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes.

Journal of intellectual disability research : JIDR
2025

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Journal of medical genetics
2025

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.

Journal of human genetics
2025

Neurobehavioral profile of individuals with pathogenic variants in CHD3.

European journal of human genetics : EJHG
2025

Exploring the Relationship Between Fragile X Syndrome and Autism: A Bibliometric Analysis of Global Research Trends.

Cureus
2025

Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.

Disease models &amp; mechanisms
2025

Fragile X and Fatal Rhythms: Electroconvulsive Therapy-Induced Ventricular Tachycardia.

JACC. Case reports
2025

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.

International journal of molecular sciences
2025

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

Epigenomics
2025

Emerging drivers of DNA repeat expansions.

Biochemical Society transactions
2025

Antipsychotic medication for behaviors that challenge in individuals with intellectual disabilities: a clinically informed review.

Frontiers in psychiatry
2025

Conditional deletion of TRPC1 channel modulates synaptic plasticity, long term depression, and memory extinction in Fragile X syndrome mice.

iScience
2025

FMRP-dependent translational control negatively regulates adapter protein complex 2-mediated endocytosis.

iScience
2025

Neurosteroids Progesterone and Dehydroepiandrosterone: Molecular Mechanisms of Action in Neuroprotection and Neuroinflammation.

Pharmaceuticals (Basel, Switzerland)
2025

Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.

International journal of molecular sciences
2026

FMRP regulation of STAT3-MYC signaling is critical for adult hippocampal neurogenesis and cognitive flexibility.

Cell death and differentiation
2025

Bringing fragile X-associated neuropsychiatric disorders into the phenotypic fold of premutation conditions.

Brain : a journal of neurology
2025

Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.

Nature genetics
2025

Gabapentin and Fragile X syndrome: A call to recognize the role of glial cells in neuropsychiatric pharmacology.

Pharmacological research
2025

Loss of FMRP in microglia promotes degeneration of parvalbumin neurons and audiogenic seizures via progranulin insufficiency.

bioRxiv : the preprint server for biology
2025

Late onset of striatal projection neuron hyperexcitability in Fmr1 -/y mice.

bioRxiv : the preprint server for biology
2025

Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.

Journal of speech, language, and hearing research : JSLHR
2025

5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications.

Molecular biology reports
2025

Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome.

Molecular psychiatry
2025

Heart rate defined sustained attention relates to visual attention in autism and fragile X syndrome.

Scientific reports
2025

Integration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.

International journal of biological macromolecules
2025

Oxford Nanopore third generation sequencing for analysis of FMR1 5'UTR CGG repeat expansions.

Analytical biochemistry
2025

Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome.

International journal of molecular sciences
2025

Soy Protein Isolate Affects Blood and Brain Biomarker Expression in a Mouse Model of Fragile X.

International journal of molecular sciences
2025

FMRP drives mRNP targets into translationally silenced complexes.

Molecular cell
2025

Aberrant neural activation during inhibitory control in girls with fragile X syndrome.

Cerebral cortex (New York, N.Y. : 1991)
2025

Exploring the genetic basis of violence: The impact of Y and X chromosomes.

Medwave
2025

RNA G-quadruplexes: emerging regulators of gene expression and therapeutic targets.

Functional &amp; integrative genomics
2025

[Development of Therapeutic Agents Targeting Higher-order Structures of Nucleic Acids in Neurodegenerative Diseases].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan
2025

Altered auditory feature discrimination in a rat model of Fragile X Syndrome.

PLoS biology
2025

FMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome.

Experimental cell research
2025

Computer vision techniques for high-speed atomic force microscopy of DNA molecules.

Nanotechnology
2025

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Genes
2025

FMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment.

Biomolecules
2025

A Transdiagnostic Comparison of Mindfulness and Parenting Stress in Mothers of Children With Autism, Developmental Delay, and Fragile X Syndrome.

American journal on intellectual and developmental disabilities
2025

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein.

Journal of visualized experiments : JoVE
2025

Quality of life outcomes and predictors for youth with intellectual disability and rare diseases.

Research in developmental disabilities
2025

Hyper-extralemniscal model of Fragile X syndrome.

Cerebral cortex (New York, N.Y. : 1991)
2025

Orchestrating Neural Development Through mRNA Translation Regulation.

Journal of neurochemistry
2025

Interactome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons.

The Journal of biological chemistry
2025

The influence of parent and couple characteristics on parental responsivity during parent-child interactions in families of children with fragile X syndrome.

Research in developmental disabilities
2025

Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Hong Kong medical journal = Xianggang yi xue za zhi
2025

Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments.

Expert review of neurotherapeutics
2025

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.

Annals of neurology
2025

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice.

Scientific data
2025

Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.

Brain : a journal of neurology
2025

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

Genes
2025

The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review.

Children (Basel, Switzerland)
2025

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2025

Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders.

Molecular autism
2025

Assessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score.

Journal of autism and developmental disorders
2025

Cortical layer-specific abnormalities in auditory responses in a mouse model of Fragile X Syndrome.

Neurobiology of disease
2025

Frontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity.

PloS one
2025

Perineuronal net degradation causes a delayed change in resting and sound evoked responses in the mouse auditory cortex.

Neuroscience
2025

Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions.

eLife
2025

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology.

International journal of molecular sciences
2025

Sex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome.

Open biology
2025

Awareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability.

Brain &amp; development
2025

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Clinical genetics
Ver todos os 3.193 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Síndrome de X-frágil e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

Não há cura descrita para a síndrome de X-frágil na literatura médica. O manejo concentra-se em intervenções terapêuticas e de reabilitação para estimular o desenvolvimento cognitivo e a comunicação.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. Local Translation in Glial Cells of the Brain.
    Annual review of cell and developmental biology2026PMID 41838432
  2. Olfactory Deficits in Fragile X Syndrome.
    The European journal of neuroscience2026PMID 41559886
  3. ORPHA:908
    Orphanet
  4. GARD:6464
    GARD (NIH)
  5. Q221472
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Síndrome de X-frágil. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-de-x-fragil

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de X-frágil
Compêndio · Raras BR

Síndrome de X-frágil

ORPHA:908 · MONDO:0010383
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
Prevalência
1-5 / 10 000
Herança
X-linked dominant
CID-10
Q99.2 · Cromossomo X frágil
CID-11
Ensaios
23 ativos
Início
Childhood, Infancy, Neonatal
Prevalência
32.5 (Worldwide)
MedGen
UMLS
C0016667
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Ensaio rand.

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara