Causa de obesidade que resulta da herança de duas cópias do cromossomo 14 da mãe e nenhuma cópia do cromossomo 14 do pai.
Introdução
O que você precisa saber de cara
Causa de obesidade que resulta da herança de duas cópias do cromossomo 14 da mãe e nenhuma cópia do cromossomo 14 do pai.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
May have a role in neuroendocrine differentiation
MembraneCytoplasm
Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta
Membrane
Variantes genéticas (ClinVar)
129 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
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 — Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2
Centros de Referência SUS
37 centros habilitados pelo SUS para Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2
Centros para Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
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 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 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 UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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 Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
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 Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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
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 São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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 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 Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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 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 Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This case illustrates challenges associated with a mixed phenotype of ultra-rare disorders and underscores the importance of investigating recessive conditions in homozygosity regions when atypical clinical features occur in patients with well-characterized imprinting disorders.
Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre- and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co-occur with trisomy 14 mosaicism. To date, only 11 live-born cases have been reported in the literature. We present a newborn girl with severe hypotonia, global developmental delay, feeding difficulties, dysmorphic features, and cardiac malformations. Using trio whole genome sequencing (WGS) no causative sequence or structural variants were detected. As a chromosomal disorder was suspected the data was further analyzed with a pipeline including analysis of UPD and low-level mosaicism, which revealed upd(14)mat and low level trisomy 14 mosaicism. This study underscores the significance of advanced genetic testing techniques, thorough data interpretation, and expert clinical evaluation in diagnosing rare disorders with complex molecular mechanisms.
Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
Silver-Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre- and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.5 LOM) or maternal uniparental disomy of chromosome 7 [UPD(7)mat], but several patients remain molecularly undiagnosed. This study describes the molecular investigation of children with a clinical diagnosis or suspicion of SRS at a tertiary center specialized in growth disorders. Thirty-nine patients were evaluated with multiplex ligation-dependent probe amplification, chromosomal microarray and/or massively parallel sequencing. The most common result was 11p15.5 LOM (n = 17; 43.5%), followed by UPD(7)mat (n = 2; 5.1%). Additionally, we found maternal duplications of the imprinting centers in 11p15.5 (n = 2; 5.1%), and genetic defects in SRS-causing genes (IGF2 and HMGA2) (n = 3; 7.7%; two mutations and one deletion). Alternative molecular diagnoses included UPD(14)mat (n = 1; 2,6%), UPD(20)mat (n = 1;2,6%), copy number variants (n = 2; 5.1%), and mutations in genes associated with other growth disorders (n = 4; 10.3%), leading to diagnoses of Temple syndrome, Mulchandani-Bhoj-Conlin syndrome, IGF-1 resistance (IGF1R), Bloom syndrome (BLM), Gabriele-De Vries syndrome (YY1), Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (NAA15), and Intellectual developmental disorder 64 (ZNF292). These findings underscore the importance of establishing the molecular diagnosis of SRS and its differential diagnoses to guide appropriate management and genetic counseling.
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous imprinting disorder. The most common molecular defects are loss of methylation of the H19/IGF2:IG-DMR on chromosome 11p15.5, followed by maternal uniparental disomy of chromosome 7. Further molecular lesions are genetic variants in the PLAG1 oncogene, as well as in the transcription factor HMGA2 and the fetal growth factor IGF2. A phenotypic overlap exists between SRS and Temple syndrome (TS14) that is also characterized by growth restriction but associated with abnormalities in the imprinted chromosome 14q32 gene cluster. In TS14 patients, the germline MEG3/DLK1: IG-DMR is hypomethylated and the MEG8:Int2-DMR gains methylation probably as consequence of transcriptional readthrough from the MEG3 promoter on the paternal chromosome. However, the functional role of the MEG8 DMR remains unknown. We analysed the DNA methylation of 11-12 imprinted regions in 17 cases with clinical SRS features and heterozygous for a PLAG1 variant. We observed a specific loss of methylation of the MEG8:Int2-DMR in the ten cases carrying pathogenic PLAG1 variants that result in stable aberrant proteins. Normal MEG8 methylation was observed in the cases carrying variants of uncertain pathogenicity or gene deletions. Most of the PLAG1 cases are familial and both epigenetic and genetic defects co-segregated within the families. Additionally, we assessed the methylation status of the MEG8:Int2-DMR in several SRS patients with HMGA2 or IGF2 variants, H19/IGF2:IG-DMR-LoM and upd(7)mat and all of them showed normal methylation. Our results indicate that pathogenic PLAG1 variants leading to stable aberrant PLAG1 proteins and possibly acting in a dominant-negative manner influence methylation of the MEG8 locus. This study suggests a new pathogenetic mechanism of the PLAG1 gene in SRS, involving imprinted genes in the chr14q32 cluster through deregulation of the MEG8:Int2-DMR and provides an epigenetic signature that may be used to assess the damaging potential of the PLAG1 variants.
Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.
While meso/dextrocardia, a cardiac axis abnormality, is associated with various complications and a poor prognosis, few studies have been reported. We aimed to identify and review patients at our hospital who had been diagnosed with fetal meso/dextrocardia. The medical records of 29 patients diagnosed with fetal meso/dextrocardia between April 1, 2014 and March 31, 2024 were reviewed. We identified eight cases of mesocardia and 21 cases of dextrocardia (17 dextropositions and four dextroversions). Right lung hypoplasia (including 3q trisomy, esophageal bronchopleural fistula, and left pulmonary artery sling) was identified in three cases. Five cases of persistent left superior vena cava (PLSVC) were identified [isolated PLSVC (n = 2), VACTERL association (n = 1), trisomy 13 (n = 2)]. Dextroposition was linked to congenital pulmonary airway malformation (eight cases), left pulmonary sequestration (one case), congenital diaphragmatic hernia (six cases), right lung hypoplasia (one case), and VACTERL association with right lung aplasia and esophageal atresia (one case). Dextroversion was associated with asplenia syndrome (two cases), single-ventricle (one case), and Temple syndrome with PLSVC and bilateral hypoplastic pulmonary arteries (one case). Among 29 newborns, six (20.7%) died during the early neonatal period and seven (24.1%) required postnatal multidisciplinary treatment, highlighting a poor prognosis in many cases. While some patients, such as those with isolated PLSVC, had favorable outcomes, several cases involved severe complications requiring intensive perinatal management. When fetal meso/dextrocardia is detected, it is critical to evaluate fetal anomalies comprehensively and not limit assessment to the heart and lungs.
Publicações recentes
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.
Using long-read sequencing to detect and subtype a case with Temple syndrome.
📚 EuropePMC39 artigos no totalmostrando 79
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
Clinical epigeneticsPrenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.
Journal of medical ultrasonics (2001)Using long-read sequencing to detect and subtype a case with Temple syndrome.
Journal of medical geneticsDual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate.
Clinical dysmorphologyPrenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).
Scientific reportsBlended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Annals of clinical and translational neurologyTemple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.
The Journal of clinical endocrinology and metabolismConcomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Clinical geneticsRare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
Clinical geneticsA long way to syndromic short stature.
Italian journal of pediatricsComprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients.
The Journal of clinical endocrinology and metabolismPrenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
BMC medical genomicsThe genetic etiology is a relevant cause of central precocious puberty.
European journal of endocrinologyA Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.
Internal medicine (Tokyo, Japan)Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Clinical epigeneticsImprinted small nucleolar RNAs: Missing link in development and disease?
Wiley interdisciplinary reviews. RNAGenetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.
The Journal of pediatricsMaternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
American journal of medical genetics. Part AThe Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Hormone research in paediatricsLong-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.
Journal of clinical research in pediatric endocrinologyMaintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells.
Clinical epigeneticsMultisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTemple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.
Journal of clinical medicineCase report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.
Frontiers in geneticsResting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.
Frontiers in endocrinologyFirst prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
Taiwanese journal of obstetrics & gynecologyA patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
American journal of medical genetics. Part AThe Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Endocrine reviewsWhole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
Journal of medical geneticsZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Clinical epigeneticsGrowth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.
GenesUPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
European journal of medical geneticsTemple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
American journal of medical genetics. Part APreimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.
Journal of medical geneticsInsights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Human reproduction (Oxford, England)Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Clinical epigeneticsMolecular characterization of temple syndrome families with 14q32 epimutations.
European journal of medical geneticsDeficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes.
Development (Cambridge, England)Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
Journal of pediatric endocrinology & metabolism : JPEMTemple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Human molecular geneticsDLK1, Notch Signaling and the Timing of Puberty.
Seminars in reproductive medicineOccurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.
Clinical geneticsLysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Journal of human geneticsA retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
European journal of human genetics : EJHGMaternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
BMJ case reportsInterchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome medicineTemple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
Clinical epigeneticsGrowth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Hormone research in paediatricsTranscriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.
Science advancesTemple syndrome diagnosed in an adult patient with clinical autism spectrum disorder.
Clinical case reportsThe origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.
EpigeneticsA New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
Molecular syndromologyChromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
The Journal of clinical endocrinology and metabolismMolecular and clinical studies in 8 patients with Temple syndrome.
Clinical geneticsA Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Acta dermato-venereologicaTemple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
American journal of medical genetics. Part AOverexpression of microRNAs from the Gtl2-Rian locus contributes to postnatal death in mice.
Human molecular geneticsDLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer.
Expert review of respiratory medicineTemple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genetics in medicine : official journal of the American College of Medical GeneticsNew insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
European journal of human genetics : EJHGMaternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.
Molecular syndromologyGastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
American journal of medical genetics. Part APaternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismHapple-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors.
The British journal of dermatologyHapple-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome.
The British journal of dermatologyGenome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsA rare cause of temple syndrome.
Clinical dysmorphologyA patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
American journal of medical genetics. Part APhenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
EpigenomicsA Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
American journal of human geneticsNSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Clinical geneticsExaminations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
BMC medical geneticsTemple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
Brain & developmentTemple syndrome misdiagnosed as Silver-Russell syndrome.
Clinical dysmorphologyThe differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.
EpigenomicsTemple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.
American journal of medical genetics. Part ANew patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
American journal of medical genetics. Part AArray-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.
European journal of medical geneticsClinical features associated with copy number variations of the 14q32 imprinted gene cluster.
American journal of medical genetics. Part AAssociações
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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.
- Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
- Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
- Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
- Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
- Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.
- Temple Syndrome.
- Correction to: "Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients".
- Using long-read sequencing to detect and subtype a case with Temple syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:254516(Orphanet)
- OMIM OMIM:616222(OMIM)
- MONDO:0014541(MONDO)
- GARD:13431(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784874(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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