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.
Introdução
O que você precisa saber de cara
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.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 47 características clínicas mais associadas, ordenadas por frequência.
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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.
Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of target mRNAs (PubMed:12417522, PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Acts as an mRNA regulator by mediating formation of some phase-separated membraneless compartment: undergoes li
Cytoplasm, Cytoplasmic ribonucleoprotein granuleCytoplasm, Stress granuleCytoplasmPerikaryonCytoplasm, perinuclear regionCell projection, neuron projectionCell projection, axonCell projection, dendriteCell projection, dendritic spineSynapse, synaptosomeCell projection, growth coneCell projection, filopodium tipSynapsePostsynaptic cell membranePresynaptic cell membraneNucleusNucleus, nucleolusChromosome, centromereChromosomeCell membraneNucleus, Cajal body
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.
Variantes genéticas (ClinVar)
272 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 36 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
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
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
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
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Outros ensaios clínicos
112 ensaios clínicos encontrados, 25 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.643
Local Translation in Glial Cells of the Brain.
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.
Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.
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.
Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.
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.
A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.
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.
Olfactory Deficits in Fragile X Syndrome.
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
Disrupted glial-mediated synaptic refinement in Fragile X syndrome.
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.
Altered ECM deposition and cell adhesion signaling in a human cortical organoid model of fragile X syndrome.
Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome.
🥇 Ensaio randomizado[Neurocognitive profile and vulnerability for mental health problems in selected genetic syndromes with disorders of intellectual development].
📚 EuropePMC3.193 artigos no totalmostrando 196
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 & biological psychiatryElectroencephalography signals in a female Fragile X Syndrome mouse model.
NeuroImageContribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome.
Neurobiology of diseasePsychiatric 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 GeneticsAn 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 NeuropathologyLocal Translation in Glial Cells of the Brain.
Annual review of cell and developmental biologyFactors associated with social participation among children with fragile X syndrome.
Disability and health journalThe Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.
Psychopharmacology bulletinStimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.
iScienceUnraveling the mechanisms of slack channel mutations in epileptic disorders.
Acta epileptologicaElevated 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 NeurophysiologyExtracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice.
Open biologyFoundations of an Ovine Model of Fragile X Syndrome.
GenesCannabinoid Therapies in Less-Common Disorders: Clinical Evidence and Formulation Strategies.
Diseases (Basel, Switzerland)Allele-specific alternative polyadenylation links noncoding genetic variation to Alzheimer's disease risk.
bioRxiv : the preprint server for biologyDirected Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.
La Tunisie medicaleCommunicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.
Research in developmental disabilitiesUp-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 AmericaPsilocybin 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 NeuropsychopharmacologyBioisostere-Driven Discovery of SePP: A Selenium-Containing Polypharmacological Agent Relevant to Fragile X Syndrome.
Journal of medicinal chemistryA human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.
Nature communicationsAlpha oscillations are dysrhythmic in Fragile X syndrome.
bioRxiv : the preprint server for biologyBehavioral 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 ResearchGABAB Receptor signaling in CA1 Pyramidal Cells is not Regulated by Aging in the APP/PS1 Mouse Model of Amyloid Pathology.
eNeuroHippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.
Neurobiology of diseaseGenetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.
Frontiers in neuroscienceTargeting autophagy for postsynaptic organization and cognitive rescue in Fragile X syndrome.
Neural regeneration researchThe apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.
Neurobiology of diseaseFMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus.
NAR molecular medicineElevated somatostatin interneuron long-term potentiation minimally regulates temporoammonic plasticity in a mouse model of Fragile X Syndrome.
Frontiers in pharmacologyOlfactory Deficits in Fragile X Syndrome.
The European journal of neuroscienceMetabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.
Cell reportsCognitive 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 : JADFrom Concerns to Care: Understanding Parental Priorities and Access to Early Intervention for Infants With Fragile X Syndrome.
Journal of intellectual disability research : JIDRAutism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.
Review journal of autism and developmental disordersMyeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.
PloS oneScreening 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 PsychiatryIntegrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.
Nature communicationsExplaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.
Developmental scienceElevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.
Scientific reportsAlterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.
Physiology & behaviorTherapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.
Brain research bulletinFMRP restoration in parvalbumin interneurons: A circuit-specific improvement of visual learning in fragile X syndrome.
iScienceDysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.
Journal of neurodevelopmental disordersAlterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome.
NeuroscienceExpanding the spectrum of AFF2 undifferentiated sarcoma associated to endometriosis: a novel ZDHHC9::AFF2 fusion sarcoma with high-grade features and poor prognosis.
PathologicaAstrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.
Neurobiology of diseaseCarrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Human genomicsThe impact of individual factors on linguistic alignment of autistic boys and their mothers.
Autism : the international journal of research and practiceEarly postsynaptic potentiation in hippocampal somatostatin interneurons is mTORC1-dependent and disrupted in Fmr1-/y mice.
NeuroscienceAltered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.
Autism research : official journal of the International Society for Autism ResearchAn Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.
Annals of clinical and translational neurologyDetection of FMR1 CGG Repeat Expansions Using Buccal Swab and Blood Samples of Children With Intellectual Disability in A Resource-Limited Country.
Journal, genetic engineering & biotechnologyUncovering novel endocannabinoidome-gut microbiome-brain axis-based therapeutic targets in a Fragile X Syndrome mouse model.
Progress in neuro-psychopharmacology & biological psychiatryGeneration and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome.
Stem cell researchIGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats.
Nature communicationsIntroducing the kollaR package: A user-friendly open-access solution for eye-tracking analysis and visualization.
Behavior research methodsMicrobiome modulation and behavioural improvements in children with fragile X syndrome following probiotic intake: A pilot study.
Scientific reportsiTBS Improves Behavioral Abnormalities and Synaptic Defects in Fmr1 KO Rats by Regulating the Autophagy Pathway.
Molecular neurobiologyOverlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.
CureusAttention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.
Frontiers in psychologyRegulatory 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 BiologyCell-intrinsic mechanisms underlying spontaneous activity in the mouse visual cortical slice: implications for fragile X pathophysiology.
Journal of neurophysiologyDelayed onset of striatal projection neuron hyperexcitability in Fmr1-/y mice.
Frontiers in cellular neuroscienceEvidence of spontaneous mentalizing in children with Cornelia de Lange and fragile X syndromes, but not autistic children.
Oxford open neuroscienceReduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
GenesSwallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.
Scientific reportsDisrupted theta synchronization and synaptic connectivity in the visual cortex of Fmr1 KO mice.
Nature communicationsEffects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.
Molecular autismAtypical Inter-Brain Synchrony and Social Communication Deficits in Girls with Fragile X Syndrome: Evidence from Functional Near-infrared Spectroscopy Hyperscanning.
Research squareAberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.
bioRxiv : the preprint server for biologyLong-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.
bioRxiv : the preprint server for biologyA rapid and dynamic role for FMRP in the plasticity of adult neurons.
Nature communicationsEnhanced CB1 receptor function in GABAergic neurons mediates hyperexcitability and impaired sensory-driven synchrony of cortical circuits in Fragile X Syndrome model mice.
Molecular psychiatryEarly Pragmatic Communication in Autism and Fragile X Syndrome.
Journal of speech, language, and hearing research : JSLHRBehavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.
Translational psychiatryLong-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 disordersRNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Frontiers in molecular biosciencesHarnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.
Journal of translational medicineAge-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.
Molecular psychiatryExploring the impact of metformin on the central nervous system and neurotransmission: A systematic review.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieImproving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.
Journal of assisted reproduction and geneticsGene Therapy for Fragile X Syndrome, Challenges, and Promises.
The journal of gene medicineFrom Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders.
Journal of neurochemistryKCNT1 (Slack/Slo2.2) and KCNT2 (Slick/Slo2.1) Dysregulation in Intellectual Disability and Behavioral Phenotypes: A Systematic Review.
CureusThe imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS).
MedicineAberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models.
Molecular autismExome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.
Molecular autismClinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis.
The Journal of molecular diagnostics : JMDThe Emerging Role of Phosphodiesterase Inhibitors in Fragile X Syndrome and Autism Spectrum Disorder.
Pharmaceuticals (Basel, Switzerland)Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations.
International journal of molecular sciencesExtracellular Vesicles-Dependent Secretion Regulates Intracellular CYFIP2 Protein Homeostasis in Cortical Neurons.
BiomedicinesFMR1 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 disabilitiesRelationship Between Intellectual Disability and Behavioral Comorbidity in Children With Fragile X Syndrome.
Journal of autism and developmental disordersBrief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development.
Journal of autism and developmental disordersA 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 : EJHGComparing loss of individual fragile X proteins suggests strong links to cellular senescence and aging.
Cellular and molecular life sciences : CMLSBehavioral benefits of GSK-3β inhibition and state-dependent microtubule signatures in the Fmr1-KO mouse.
Frontiers in neuroscienceCombined 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 neuroFRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.
Journal of human geneticsPrevalence 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 pediatricsCRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.
Science translational medicineAssociations Between Altered Auditory EEG Markers and Clinical Impairments in Fragile X Syndrome.
Journal of autism and developmental disordersBeyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome.
Frontiers in psychiatryEvaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
European journal of human genetics : EJHGAltering rRNA 2'O-methylation pattern during neuronal differentiation is regulated by FMRP.
RNA biologySerum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May Benefit Clinical Therapy Development.
International journal of general medicineSleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.
Human molecular geneticsMultidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.
Obesity factsPsychiatric Condition Management in Primary Care for Adults with Intellectual and Developmental Disabilities.
Southern medical journalDivergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome.
Molecular autismRepurposing Nitazoxanide to target the expanded r(CGG)n repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome.
International journal of biological macromoleculesFX ENTRAIN: scientific context, study design, and biomarker driven brain-computer interfaces in neurodevelopmental conditions.
Frontiers in neuroscienceImpact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.
Orphanet journal of rare diseasesClinical, 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 NeuroscienceDelayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.
Frontiers in molecular neuroscienceImpaired thalamic burst firing in fragile X syndrome.
Cell reportsCA2 neurons show abnormal responses to social stimuli in a rat model of Fragile X syndrome.
bioRxiv : the preprint server for biologyMorphogen-guided neocortical organoids recapitulate regional areal identity and model neurodevelopmental disorder pathology.
bioRxiv : the preprint server for biologyEnhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.
World journal of pediatrics : WJPAutophagy controls the hippocampal postsynaptic organization and affects cognition in a mouse model of Fragile X syndrome.
Molecular psychiatryScheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of fragile X syndrome.
eLifeFMR1 mutant marmosets show fragile X syndrome phenotypes.
Cell reportsExaggerated NMDA Receptor-Primed Metaplasticity via SK Channel Dysregulation in Fmr1 Knockout Mice.
bioRxiv : the preprint server for biologyFmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons.
Experimental physiologyPreliminary perspectives on gene therapy in fragile X syndrome: a caregiver view.
Journal of neurodevelopmental disordersA survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.
Epilepsy & behavior : E&BLearning impairments in Fmr1-/- mice on an audio-visual temporal pattern discrimination task.
Journal of neurodevelopmental disordersROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers.
Translational psychiatryFMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations.
GenesSevere Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.
GenesContrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes.
Journal of intellectual disability research : JIDRReproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.
Journal of medical geneticsProspective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.
Journal of human geneticsNeurobehavioral profile of individuals with pathogenic variants in CHD3.
European journal of human genetics : EJHGExploring the Relationship Between Fragile X Syndrome and Autism: A Bibliometric Analysis of Global Research Trends.
CureusInteraction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.
Disease models & mechanismsFragile X and Fatal Rhythms: Electroconvulsive Therapy-Induced Ventricular Tachycardia.
JACC. Case reportsA 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.
International journal of molecular sciencesHigh-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.
EpigenomicsEmerging drivers of DNA repeat expansions.
Biochemical Society transactionsAntipsychotic medication for behaviors that challenge in individuals with intellectual disabilities: a clinically informed review.
Frontiers in psychiatryConditional deletion of TRPC1 channel modulates synaptic plasticity, long term depression, and memory extinction in Fragile X syndrome mice.
iScienceFMRP-dependent translational control negatively regulates adapter protein complex 2-mediated endocytosis.
iScienceNeurosteroids Progesterone and Dehydroepiandrosterone: Molecular Mechanisms of Action in Neuroprotection and Neuroinflammation.
Pharmaceuticals (Basel, Switzerland)Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.
International journal of molecular sciencesFMRP regulation of STAT3-MYC signaling is critical for adult hippocampal neurogenesis and cognitive flexibility.
Cell death and differentiationBringing fragile X-associated neuropsychiatric disorders into the phenotypic fold of premutation conditions.
Brain : a journal of neurologyTherapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.
Nature geneticsGabapentin and Fragile X syndrome: A call to recognize the role of glial cells in neuropsychiatric pharmacology.
Pharmacological researchLoss of FMRP in microglia promotes degeneration of parvalbumin neurons and audiogenic seizures via progranulin insufficiency.
bioRxiv : the preprint server for biologyLate onset of striatal projection neuron hyperexcitability in Fmr1 -/y mice.
bioRxiv : the preprint server for biologyPrelinguistic Communication Complexity of Children With Neurogenetic Syndromes.
Journal of speech, language, and hearing research : JSLHR5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications.
Molecular biology reportsDistinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome.
Molecular psychiatryHeart rate defined sustained attention relates to visual attention in autism and fragile X syndrome.
Scientific reportsIntegration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.
International journal of biological macromoleculesOxford Nanopore third generation sequencing for analysis of FMR1 5'UTR CGG repeat expansions.
Analytical biochemistryActivity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome.
International journal of molecular sciencesSoy Protein Isolate Affects Blood and Brain Biomarker Expression in a Mouse Model of Fragile X.
International journal of molecular sciencesFMRP drives mRNP targets into translationally silenced complexes.
Molecular cellAberrant neural activation during inhibitory control in girls with fragile X syndrome.
Cerebral cortex (New York, N.Y. : 1991)Exploring the genetic basis of violence: The impact of Y and X chromosomes.
MedwaveRNA G-quadruplexes: emerging regulators of gene expression and therapeutic targets.
Functional & integrative genomics[Development of Therapeutic Agents Targeting Higher-order Structures of Nucleic Acids in Neurodegenerative Diseases].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanAltered auditory feature discrimination in a rat model of Fragile X Syndrome.
PLoS biologyFMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome.
Experimental cell researchComputer vision techniques for high-speed atomic force microscopy of DNA molecules.
NanotechnologyCouple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
GenesFMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment.
BiomoleculesA 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 disabilitiesGeneration and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein.
Journal of visualized experiments : JoVEQuality of life outcomes and predictors for youth with intellectual disability and rare diseases.
Research in developmental disabilitiesHyper-extralemniscal model of Fragile X syndrome.
Cerebral cortex (New York, N.Y. : 1991)Orchestrating Neural Development Through mRNA Translation Regulation.
Journal of neurochemistryInteractome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons.
The Journal of biological chemistryThe influence of parent and couple characteristics on parental responsivity during parent-child interactions in families of children with fragile X syndrome.
Research in developmental disabilitiesFragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.
Hong Kong medical journal = Xianggang yi xue za zhiAtypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome.
The Journal of neuroscience : the official journal of the Society for NeuroscienceBehavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments.
Expert review of neurotherapeuticsLongitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.
Annals of neurologyA Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice.
Scientific dataModelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.
Brain : a journal of neurologyA Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.
GenesThe 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)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 GeneticsBetter statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders.
Molecular autismAssessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score.
Journal of autism and developmental disordersCortical layer-specific abnormalities in auditory responses in a mouse model of Fragile X Syndrome.
Neurobiology of diseaseFrontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity.
PloS onePerineuronal net degradation causes a delayed change in resting and sound evoked responses in the mouse auditory cortex.
NeuroscienceInsufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions.
eLifeInvolvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology.
International journal of molecular sciencesSex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome.
Open biologyAwareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability.
Brain & developmentIdentification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Clinical geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Local Translation in Glial Cells of the Brain.
- Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.
- 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· PMID 41701821mais citado
- A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.
- Olfactory Deficits in Fragile X Syndrome.
- Disrupted glial-mediated synaptic refinement in Fragile X syndrome.
- Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.
- Altered ECM deposition and cell adhesion signaling in a human cortical organoid model of fragile X syndrome.
- Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome.
- [Neurocognitive profile and vulnerability for mental health problems in selected genetic syndromes with disorders of intellectual development].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:908(Orphanet)
- OMIM OMIM:300624(OMIM)
- MONDO:0010383(MONDO)
- GARD:6464(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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.
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