A síndrome de Coffin-Siris (SCS) é uma condição genética rara e de nascença que afeta diversas partes do corpo. Ela se caracteriza pela falta ou desenvolvimento incompleto do osso da ponta ou da unha do quinto dedo, atraso no desenvolvimento, deficiência intelectual, traços faciais marcantes e outras manifestações clínicas que podem variar.
Introdução
O que você precisa saber de cara
A síndrome de Coffin-Siris (SCS) é uma condição genética rara e de nascença que afeta diversas partes do corpo. Ela se caracteriza pela falta ou desenvolvimento incompleto do osso da ponta ou da unha do quinto dedo, atraso no desenvolvimento, deficiência intelectual, traços faciais marcantes e outras manifestações clínicas que podem variar.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 90 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 260 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
12 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling c
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Coffin-Siris syndrome 2
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454)
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Coffin-Siris syndrome 12
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Durin
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Coffin-Siris syndrome 1
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Durin
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Meningioma
A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.
Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to
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Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
An autosomal dominant disorder characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression
Nucleus
Coffin-Siris syndrome 8
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant.
Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311)
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Intellectual developmental disorder with speech delay and dysmorphic facies
An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present.
Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684)
NucleusCytoplasm
Coffin-Siris syndrome 7
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant.
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures
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Rhabdoid tumor predisposition syndrome 1
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:15075294, PubMed:29374058, PubMed:30339381, PubMed:32459350). Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter ac
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Rhabdoid tumor predisposition syndrome 2
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes
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Coffin-Siris syndrome 6
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058, PubMed:8804307). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remode
Nucleus
Coffin-Siris syndrome 11
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
Variantes genéticas (ClinVar)
1,416 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,060 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
20 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 — Síndrome Coffin-Siris
Selecione um estado ou use sua localização para ver resultados.
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
This study aims to expand the spectrum of Coffin-Siris syndrome (CSS), a rare and heterogeneous disorder, by thoroughly discussing its genetic, dysmorphic, and endocrine features through new cases and contributing to the literature. Eight patients who were referred to the genetics clinic with various complaints and subsequently diagnosed with CSS through microarray or clinical exome sequencing analyses were included in the study. The dysmorphic, genetic, and endocrine characteristics of eight genetically confirmed patients were evaluated. The patients, aged between 5 months and 6 years at the time of referral, comprised four females and four males. The most common reasons for referral were developmental delay and dysmorphic features. All patients exhibited varying degrees of dysmorphic facial features. Hypertrichosis, a typical feature of the syndrome, was present in five patients. Another characteristic finding was mild hypoplasia of the terminal fifth phalanges, observed in patients 1, 2, and 6. Consistent with this, mild/subtle hypoplasia and/or slight positional changes of the fifth fingernails were noted in these patients, rather than overt nail anomalies. In our study, eight variants were identified, two of which were novel. In our cohort, pathological short stature was observed in three patients, while hypothyroidism, transient hypercalcemia, cryptorchidism, and recurrent fractures were each identified in one patient. All three patients with short stature had delayed bone age with head circumference and BMI < - 2 SDS. Seven patients were diagnosed with ARID1B-related CSS type 1, while one patient was diagnosed with SMARCA4-related CSS type 4. Among the eight findings across patients, two were deletion-type copy-number variations (CNVs) identified by microarray analysis, and six were sequence variants: two frameshift, two splice-site, one nonsense, and one synonymous. Seven variants were classified as pathogenic and one as likely pathogenic. Family studies confirmed that the variants were de novo and validated their clinical relevance. CSS is a clinically and genetically heterogeneous syndrome. Patients may present with highly variable features, and typical signs of the syndrome may not be observed in all cases. This study expands the clinical spectrum of this rare syndrome and contributes to its genetic spectrum with the identification of new variants. • Coffin-Siris syndrome (CSS) is a clinically and genetically heterogeneous neurodevelopmental disorder most commonly caused by variants in SWI/SNF (BAF) complex genes (e.g., ARID1B, SMARCA4) and characterized by dysmorphic features, developmental delay, hypertrichosis, and fifth-digit/nail anomalies. • Endocrine and growth-related manifestations can occur in CSS, but their frequency and phenotypic range vary across cohorts and require individualized clinical follow-up. • This case series of eight genetically confirmed CSS patients (7 ARID1B, 1 SMARCA4) expands the phenotypic spectrum by detailing dysmorphic findings together with endocrine features including pathological short stature with delayed bone age, hypothyroidism, transient hypercalcemia, cryptorchidism, and recurrent fractures. • We identified eight pathogenic/likely pathogenic variants, including two novel variants, and highlight that fifth digit/nail involvement may be subtle (mild terminal fifth phalanx hypoplasia and minor fifth nail changes) rather than overt.
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
The SMARCA4 gene encodes a catalytic subunit of the BRG1/BRM-associated factor complex, which regulates gene expression through chromatin remodeling. Heterozygous missense variants in this gene have been linked to Coffin-Siris syndrome, characterized by intellectual development disorder and various congenital anomalies (distinctive facial features, hypoplastic fifth digits, and malformations of the heart and central nervous system), but it is not typically associated with structural eye anomalies. Truncating variants in SMARCA4 have been associated with rhabdoid tumors predisposition syndrome, a group of rare and aggressive tumors occurring predominantly in infancy. Through pangenomic analyses (whole-exome or whole-genome sequencing), we identified loss-of-function variants in SMARCA4 in three unrelated individuals with microphthalmia and/or coloboma. None of these individuals had a history of rhabdoid tumors; however, a regular oncological follow-up was established following the SMARCA4 variant identification. Systemic features observed in these individuals consisted of developmental delay and brain anomalies. However, their clinical presentation does not align with classic features of Coffin-Siris syndrome. Although eye development anomalies have occasionally been reported in individuals with a pathogenic variant in SMARCA4, no clear association has been established to date. The description of these three new individuals provides further evidence supporting the role of SMARCA4 in eye development and its likely involvement in structural eye malformations.
Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
Coffin-Siris Syndrome (CSS) is a neurodevelopmental disorder caused by variants in genes encoding BRG1- and BRM-associated factor (BAF) chromatin-remodeling complex. ARID1B gene variants are the most common cause of CSS. This study aimed to identify novel pathogenic ARID1B variants in patients clinically diagnosed with CSS and to explore their pathogenic role. In this study, eight patients clinically diagnosed with CSS were enrolled, and whole exome sequencing (WES) was performed to identify potential pathogenic variants. Heterozygous variants in the ARID1B gene were identified in six patients, including one previously reported pathogenic nonsense variant and five novel pathogenic truncating variants. The combined annotation-dependent depletion (CADD) scores of the five novel variants were significantly above the mutation significance cutoff (MSC), suggesting their potential pathogenicity. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), these five novel variants were classified as pathogenic. Our findings add five novel variants to the list of known pathogenic variants of the ARID1B gene. This study further clarifies an enhanced connection between ARID1B gene variants and CSS and expands the variant spectrum of CSS. • Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, and hypoplasia of the fifth digits or nails. • Pathogenic variants in genes encoding subunits of the BAF chromatin-remodeling complex are the major genetic causes of CSS, with ARID1B being the most frequently mutated gene, and most variants of which are truncating and lead to haploinsuffucuency. • Five novel heterozygous truncating variants in ARID1B were identified in eight patients clinically diagnosed with Coffin-Siris syndrome. • All novel variants showed high CADD scores and were classified as pathogenic according to ACMG guidelines.
Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.
Congenital diaphragmatic hernia (CDH) is a developmental anomaly associated with high mortality and morbidity, primarily attributed to accompanying pulmonary hypoplasia. Genetic factors are crucial in the etiology and pathogenesis of CDH, with various copy number variations (CNVs) and gene sequence variants implicated in this malformation. Previous studies have underscored the importance of retinoic acid (RA) signaling pathways and related genes. Nonetheless, the complexity of diaphragmatic development involving cell migration, cytoskeleton organization, and myogenesis suggests that candidate CDH genes extend beyond the RA pathway. To explore novel candidate gene variants and their roles in CDH, we performed whole exome sequencing (WES) in CDH-affected fetuses. Following the evaluation of chromosome and array-CGH analyses, 17 CDH cases with normal results in our cohort were subjected to WES. Trio-WES was conducted on eight fetuses, while solo-WES was applied to the remaining nine cases. The identified variants were validated and subjected to segregation analysis via Sanger sequencing. Bioinformatic analysis revealed novel potentially pathogenic variants not only in six genes previously known to be associated with CDH (NR2F2, ZFPM2, ARID1A, CREBBP, PLAT, and RARB) but also in nine additional genes (COL11A1, NEIL2, PCSK5, RBM8A, STAB2, SETD5, TAF4, ZBTB38, and ZNF423) that, based on their functions, database entries, and literature, may be considered candidate genes for CDH. Our findings reinforce that no single gene or variant is responsible for the majority of CDH cases, and also demonstrated the effectiveness of WES in identifying novel candidate genes and variants that contribute to CDH etiology.
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions.
Complex chromosomal rearrangements (CCRs) are structural variants involving multiple breakpoints. Among these, intrachromosomal balanced CCRs containing inversions pose significant diagnostic and interpretative challenges, as conventional cytogenetic methods including G-banded karyotype, FISH, and chromosomal microarray lack the resolution needed to determine their structural complexity. Paracentric inversions are traditionally associated with a negligible risk of a viable unbalanced offspring. Here, we describe a familial intrachromosomal rearrangement comprising a complex paracentric inversion of chromosome 6q, transmitted across multiple generations, that resulted in five affected children with recombinant chromosomes harboring reciprocal interstitial gains and losses on 6q. High-resolution optical genome mapping revealed a ~75 Mb parental balanced CCR, formed by multiple sequential paracentric inversions that contain a single ~13 Mb correctly oriented segment. Bias meiotic recombination between homologous chromosomes 6 within this segment is responsible for recurrent unbalanced products resembling recombinant chromosomes typically associated with pericentric inversions. These findings challenge the prevailing assumption that paracentric inversions rarely result in viable recombinant chromosomes and demonstrate how complex chromosomal architecture can directly influence meiotic behavior and reproductive outcomes. Our study underscores the importance of high-resolution genomic technologies for accurate diagnosis, interpretation of a molecular mechanism, and reproductive risk assessment in carriers of CCR.
Publicações recentes
Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.
ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.
Intranasal exosome therapy in Coffin-Siris syndrome: Clinical evaluation of three children.
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
📚 EuropePMC225 artigos no totalmostrando 195
Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
European journal of pediatricsUnusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions.
American journal of medical genetics. Part AA novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.
GeneChromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.
Acta neuropathologica communicationsDouble Lacrimal Puncta in a Case of Coffin-Siris Syndrome.
Ophthalmic plastic and reconstructive surgeryBeyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.
GenesExpanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Clinical geneticsIdentification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
European journal of pediatricsClinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.
Molecular genetics & genomic medicineDiscovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.
Pediatrics international : official journal of the Japan Pediatric SocietyPrenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.
GenesLong-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
BMC medical genomicsOptic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report.
Case reports in geneticsARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.
European journal of medical geneticsCase report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.
Epilepsy & behavior reportsCase Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.
Frontiers in pediatricsA Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.
CureusA Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.
G3 (Bethesda, Md.)SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Familial cancerDelayed diagnosis of glaucoma in Coffin-Siris syndrome.
American journal of ophthalmology case reportsIdentification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.
Frontiers in genetics[Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsEvaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Cancer geneticsInflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.
Clinical and experimental rheumatologySMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.
Frontiers in pediatricsNext Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Clinical geneticsARID1B-related disorder in 87 adults: Natural history and self-sustainability.
Genetics in medicine openA novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Acta biochimica et biophysica SinicaCoffin-Siris Syndrome and Unusual Angiogenic Profiles in Pregnancy: A Case Study Emphasizing Caution in Interpreting a Very Low sFlt-1/PlGF Ratio.
American journal of medical genetics. Part ABILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.
Retinal cases & brief reportsA rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.
BMC medical genomicsNovel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features.
Prenatal diagnosisMicroduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Genetics in medicine : official journal of the American College of Medical Genetics[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Italian journal of pediatricsExpanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
The Journal of clinical endocrinology and metabolismMore than three years' treatment response of recombinant human growth hormone in a patient with Coffin-Siris syndrome 7.
Endokrynologia PolskaARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.
American journal of human geneticsPHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.
Nature communicationsCoffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.
CureusThe missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
Human geneticsSEM-2/SoxC regulates multiple aspects of C. elegans postembryonic mesoderm development.
bioRxiv : the preprint server for biologyFirst report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.
The Clinical neuropsychologistArid1b haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypes.
bioRxiv : the preprint server for biologyNail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome.
Anais brasileiros de dermatologiaA novel BICRA variant causing Coffin-Siris Syndrome.
Minerva medicaShort Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.
Research in developmental disabilitiesCoffin-Siris syndrome: A case report and dental findings.
International journal of paediatric dentistryARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling.
Nature communicationsDe novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
BMC medical genomicsDNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG advancesExpanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.
European journal of medical geneticsCoffin-Siris syndrome and apneas. Comment on "Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication? Prabhakar P, Chandran SD, Tembhurne SA, Mathew A, Rai E. Pediatr Anesth. 2024; 00: 1-2. Doi: 10.1111/pan.14892".
Paediatric anaesthesiaDPF2-related Coffin-Siris syndrome type 7 in two generations.
European journal of medical geneticsIdentification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.
Clinical oral investigationsIdentification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.
American journal of medical genetics. Part ACoffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication?
Paediatric anaesthesiaOral and dental abnormalities in Coffin Siris syndrome : A new case report.
La Tunisie medicaleProtein destabilization underlies pathogenic missense mutations in ARID1B.
Nature structural & molecular biologyTreatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.
Clinical case reportsARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.
American journal of medical genetics. Part ACoffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.
Annals of clinical and laboratory science[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsDelineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Human geneticsPrenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAutism spectrum disorder and Coffin-Siris syndrome-Case report.
Frontiers in psychiatryMicrospherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report.
The application of clinical geneticsIntegration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
American journal of medical genetics. Part C, Seminars in medical geneticsRecurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.
Clinical dysmorphologyPathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Clinical geneticsElucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genetics in medicine : official journal of the American College of Medical GeneticsAbnormal chromatin remodeling caused by ARID1A deletion leads to malformation of the dentate gyrus.
Cell death and differentiationFirst-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology.
Congenital anomaliesA de novo variant of BICRA results in Coffin-Siris syndrome 12.
Molecular genetics & genomic medicineOnychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.
Skin appendage disordersIntegrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome.
Brain & developmentAnesthetic management in a child with Coffin Siris syndrome.
Journal of anaesthesiology, clinical pharmacologyCoffin-Siris syndrome and cancer susceptibility.
Genetics in medicine openPigmentation abnormalities in Coffin-Siris syndrome.
Clinical geneticsFacial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish.
Disease models & mechanismsA newborn with coffin-siris syndrome.
JPMA. The Journal of the Pakistan Medical AssociationGenetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.
GeneticsNovel Variants of SOX4 in Patients with Intellectual Disability.
International journal of molecular sciencesARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
American journal of medical genetics. Part ADiscovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical GeneticsRecommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.
European journal of medical geneticsGrowth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
Molecular syndromologyOccurrence of sotos syndrome and coffin-siris syndrome in a family.
Pediatrics and neonatologyCoffin-Siris syndrome: Clinical description of two cases.
Clinical case reportsHigh molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
European journal of human genetics : EJHGEstablishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene.
Stem cell research[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIdentification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.
Brain & developmentCongenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
American journal of medical genetics. Part AAcetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons.
EMBO molecular medicineTwo SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.
American journal of medical genetics. Part AThree Novel ARID1B Variations in Coffin-Siris Syndrome Patients.
Neurology IndiaNext-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy.
Pediatrics and neonatologyEpilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
American journal of medical genetics. Part APituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.
Archive of clinical casesSevere coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants.
European journal of medical genetics"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
European journal of medical geneticsShort stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.
BMC pediatricsIdentification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.
Frontiers in genetics[Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Human genome variationARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.
Frontiers in pediatricsPrenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Prenatal diagnosisEvidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
American journal of medical genetics. Part AOn the Interaction Between SMARCAL1 and BRG1.
Frontiers in cell and developmental biologyNeurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder.
Journal of pediatric rehabilitation medicineCochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
American journal of medical genetics. Part AA novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.
American journal of medical genetics. Part ADe Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
Journal of molecular neuroscience : MNCoffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.
Genes & genomics[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNeurodevelopmental disorders: 2022 update.
Free neuropathologyLate-onset hypertension in a child with growth retardation: Answers.
Pediatric nephrology (Berlin, Germany)Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.
BMC medical genomicsConsolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Journal of medical geneticsLanguage Impairments in Individuals With Coffin-Siris Syndrome.
Frontiers in neuroscienceFrameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.
Journal of pediatric geneticsPrenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
European journal of medical geneticsEyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Journal of the European Academy of Dermatology and Venereology : JEADVRetrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genetics in medicine : official journal of the American College of Medical GeneticsFurther supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
American journal of medical genetics. Part ANon-occlusive mesenteric ischemia in a toddler with 6q25 microdeletion syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyNovel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Journal of autism and developmental disordersIdentification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.
BMC medical genomicsInability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.
Nature communicationsEpilepsy features in ARID1B-related Coffin-Siris syndrome.
Epileptic disorders : international epilepsy journal with videotapePhenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
BMC medical genomicsSMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.
Molecular cancer therapeuticsMagnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review.
The Iowa orthopaedic journalChromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
Frontiers in geneticsA Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
GenesCHARGE syndrome and related disorders: a mechanistic link.
Human molecular geneticsGenotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
GenesRehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders.
Journal of pediatric rehabilitation medicineMetacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.
Congenital anomaliesTwo Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Molecular syndromologyChromatin remodeler Arid1a regulates subplate neuron identity and wiring of cortical connectivity.
Proceedings of the National Academy of Sciences of the United States of AmericaNovel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1.
Experimental and therapeutic medicineGeneration of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
Stem cell researchMaternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
European journal of human genetics : EJHGClinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
Journal of the Formosan Medical Association = Taiwan yi zhiGenotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
American journal of medical genetics. Part ANeuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development.
Molecular autismThe Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination.
Frontiers in cell and developmental biologyA boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Neuro endocrinology lettersRhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.
Frontiers in oncologyCurrent recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
Familial cancerTemporal bone dysplasia in Coffin-Siris syndrome.
BMJ case reportsClinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Journal of medical geneticsFirst observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
BMC ophthalmologyA Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Annals of laboratory medicineMultiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome.
International journal of biological sciencesAssociation between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.
Journal of medical geneticsCoffin-Siris syndrome and epilepsy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCoffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH.
Molecular syndromologySystemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
American journal of medical genetics. Part C, Seminars in medical geneticsGrowth charts for individuals with Coffin-Siris syndrome.
American journal of medical genetics. Part APure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.
European journal of medical geneticsThe variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
American journal of medical genetics. Part ACRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome.
Stem cell researchKoebner phenomenon of vitiligo associated with Coffin-Siris syndrome.
European journal of dermatology : EJDCoffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
Congenital anomaliesDiscovering candidate imprinted genes and imprinting control regions in the human genome.
BMC genomicsCoffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.
Journal of the neurological sciencesConserved roles of chromatin remodellers in cohesin loading onto chromatin.
Current geneticsFirst Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.
Annals of clinical and laboratory scienceRecurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling.
CellBRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor?
Epigenetics & chromatinA new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.
Brain & developmentPhenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.
Journal of pediatric geneticsSMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.
International journal of pediatric otorhinolaryngologyGenome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.
Cytogenetic and genome researchDe novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Molecular genetics & genomic medicineGenetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal of human geneticsStriking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
European journal of medical geneticsMutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Nature communicationsInflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
PediatricsExpanding the phenotypic spectrum associated with DPF2: A new case report.
American journal of medical genetics. Part AA case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.
Cold Spring Harbor molecular case studiesSignificant contribution of intragenic deletions to ARID1B mutation spectrum.
Genetics in medicine : official journal of the American College of Medical GeneticsA novel human stem cell model for Coffin-Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival.
Human molecular geneticsRetinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Molecular genetics & genomic medicineCorpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.
Psychiatric geneticsRaised intra-ocular pressure in the setting of Coffin-Siris syndrome.
Eye (London, England)A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
American journal of human geneticsPatient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.
American journal of medical genetics. Part AHistone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease.
BiologyDe Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
American journal of human geneticsVitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation.
JAAD case reportsAssociações
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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.
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
- Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
- Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
- Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41454640mais citado
- Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions.
- Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.
- ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.
- Intranasal exosome therapy in Coffin-Siris syndrome: Clinical evaluation of three children.
- Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1465(Orphanet)
- MONDO:0015452(MONDO)
- GARD:6124(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2348105(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
