Coffin-Siris syndrome is a SWI/SNF complex disorder.
paper
Cited
Public
Unavailable
- Authors
- Tsurusaki, Y; Okamoto, N; Ohashi, H; Mizuno, S; Matsumoto, N; Makita, Y; Fukuda, M; Isidor, B; Perrier, J; Aggarwal, S; Dalal, A B; Al-Kindy, A; Liebelt, J; Mowat, D; Nakashima, M; Saitsu, H; Miyake, N; Matsumoto, N
- Year
- 2014
- Journal
- Clinical genetics
- PMID
- 23815551
- DOI
- 10.1111/cge.12225
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non-fermenting (SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In this study, we examined 49 newly recruited CSS-suspected patients, and re-examined three patients who did not show any mutations (using high-resolution melting analysis) in the previous study, by whole-exome sequencing or targeted resequencing. We found that SMARCB1, SMARCA4, or ARID1B were mutated in 20 patients. By examining available parental samples, we ascertained that 17 occurred de novo. All mutations in SMARCB1 and SMARCA4 were non-truncating (missense or in-frame deletion) whereas those in ARID1B were all truncating (nonsense or frameshift deletion/insertion) in this study as in our previous study. Our data further support that CSS is a SWI/SNF complex disorder.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases. | Kolkiran A et al. | — | 2026 | → |
| Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome. | Ge Y et al. | — | 2026 | → |
| Molecular interactome of HNRNPU reveals regulatory networks in neuronal differentiation and DNA methylation. | Oksanen M et al. | — | 2026 | → |
| Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree. | Xu WJ et al. | — | 2026 | → |
| A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes. | Baccas M et al. | — | 2025 | → |
| ARID1A regulates histone octamer transfer activity of human canonical BAF complex. | Moro N et al. | — | 2025 | → |
| ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. | Houdayer C et al. | — | 2025 | → |
| Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome. | Ye XL et al. | — | 2025 | → |
| SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis. | Kehrer-Sawatzki H et al. | — | 2025 | → |
| A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma. | Guo Z et al. | — | 2024 | → |
| ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. | Martins-Costa C et al. | — | 2024 | → |
| Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review. | Gallagher JE et al. | — | 2024 | → |
| Epigenetic regulation of craniofacial development and disease. | Shull LC et al. | — | 2024 | → |
| Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature. | Alharbi R et al. | — | 2024 | → |
| Frameshift Variant in <i>ARID2</i> in a Chilean Individual with Coffin-Siris Syndrome Phenotype. | Martin Merlez F et al. | — | 2024 | → |
| <i>SMARCA4</i>-related Coffin-Siris syndrome in newborn: a case report and literature review. | Wang Y et al. | — | 2024 | → |
| Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease. | Keskinen S et al. | — | 2024 | → |
| The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. | Bosch E et al. | — | 2024 | → |
| A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice. | Brugmans AK et al. | — | 2023 | → |
| ATP-Dependent Chromatin Remodellers in Inner Ear Development. | Chohra I et al. | — | 2023 | → |
| Autism spectrum disorder and Coffin-Siris syndrome-Case report. | Milutinovic L et al. | — | 2023 | → |
| Dissecting the role of SWI/SNF component ARID1B in steady-state hematopoiesis. | Madan V et al. | — | 2023 | → |
| Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome. | Wu C et al. | — | 2023 | → |
| Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders. | Valencia AM et al. | — | 2023 | → |
| Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss. | Wang Q et al. | — | 2023 | → |
| A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. | Sofronova V et al. | — | 2022 | → |
| BCL7A-containing SWI/SNF/BAF complexes modulate mitochondrial bioenergetics during neural progenitor differentiation. | Wischhof L et al. | — | 2022 | → |
| Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4. | Liu M et al. | — | 2022 | → |
| Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. | van der Sluijs PJ et al. | — | 2022 | → |
| Functional crosstalk between the cohesin loader and chromatin remodelers. | Muñoz S et al. | — | 2022 | → |
| Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. | Li D et al. | — | 2022 | → |
| High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. | Munabi NCO et al. | — | 2022 | → |
| Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant. | Hanker B et al. | — | 2022 | → |
| Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. | Slavotinek A et al. | — | 2022 | → |
| Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report. | Tao DY et al. | — | 2022 | → |
| SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities. | Cooper GW et al. | — | 2022 | → |
| Three Novel <i>ARID1B</i> Variations in Coffin-Siris Syndrome Patients. | Tan Y et al. | — | 2022 | → |
| Transcription Pause and Escape in Neurodevelopmental Disorders. | Eigenhuis KN et al. | — | 2022 | → |
| A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria. | van der Sluijs PJ et al. | — | 2021 | → |
| Enhancement of E-cadherin expression and processing and driving of cancer cell metastasis by ARID1A deficiency. | Wang J et al. | — | 2021 | → |
| Epilepsy features in ARID1B-related Coffin-Siris syndrome. | Proietti J et al. | — | 2021 | → |
| Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome. | Cheng SSW et al. | — | 2021 | → |
| Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders. | Pagliaroli L et al. | — | 2021 | → |
| Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1. | Min Z et al. | — | 2021 | → |
| Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. | Lee Y et al. | — | 2021 | → |
| Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. | Del Baldo G et al. | — | 2021 | → |
| SOX11-related syndrome: report on a new case and review. | Wakim V et al. | — | 2021 | → |
| Temporal bone dysplasia in Coffin-Siris syndrome. | Wauchope J et al. | — | 2021 | → |
| The BAF chromatin remodeling complexes: structure, function, and synthetic lethalities. | Varga J et al. | — | 2021 | → |
| The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination. | Pagliaroli L et al. | — | 2021 | → |
| A Structural Model of the Endogenous Human BAF Complex Informs Disease Mechanisms. | Mashtalir N et al. | — | 2020 | → |
| BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Barish S et al. | — | 2020 | → |
| Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous <i>SMARCA4</i> Deletion Detected by High-Resolution aCGH. | Mitrakos A et al. | — | 2020 | → |
| Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. | Fujita T et al. | — | 2020 | → |
| Conserved roles of chromatin remodellers in cohesin loading onto chromatin. | Muñoz S et al. | — | 2020 | → |
| Neurodevelopmental Disorders Caused by Defective Chromatin Remodeling: Phenotypic Complexity Is Highlighted by a Review of ATRX Function. | Timpano S et al. | — | 2020 | → |
| Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. | Pascolini G et al. | — | 2020 | → |
| Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. | Miraldi Utz V et al. | — | 2020 | → |
| The mechanisms of action of chromatin remodelers and implications in development and disease. | Sahu RK et al. | — | 2020 | → |
| A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant. | Dsouza NR et al. | — | 2019 | → |
| A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. | Diets IJ et al. | — | 2019 | → |
| BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor? | Jancewicz I et al. | — | 2019 | → |
| Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. | Gazdagh G et al. | — | 2019 | → |
| Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. | Sekiguchi F et al. | — | 2019 | → |
| Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome. | Kalmbach A et al. | — | 2019 | → |
| Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. | Aguilera C et al. | — | 2019 | → |
| Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. | Melo Gomes S et al. | — | 2019 | → |
| Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. | Cellini E et al. | — | 2019 | → |
| Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. | Valencia AM et al. | — | 2019 | → |
| Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. | Cappuccio G et al. | — | 2019 | → |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. | van der Sluijs PJ et al. | — | 2019 | → |
| The BAF complex in development and disease. | Alfert A et al. | — | 2019 | → |
| The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. | Moffat JJ et al. | — | 2019 | → |
| BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. | Aref-Eshghi E et al. | — | 2018 | → |
| Enhancers: bridging the gap between gene control and human disease. | Karnuta JM et al. | — | 2018 | → |
| First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. | Mannino EA et al. | — | 2018 | → |
| General Anesthesia and Young Brain: What is New? | Jevtovic-Todorovic V et al. | — | 2018 | → |
| Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. | Holsten T et al. | — | 2018 | → |
| Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. | Bögershausen N et al. | — | 2018 | → |
| Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. | Vasileiou G et al. | — | 2018 | → |
| Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis. | Khan U et al. | — | 2018 | → |
| Recent advances in branching mechanisms underlying neuronal morphogenesis | Menon S et al. | — | 2018 | — |
| Recent advances in branching mechanisms underlying neuronal morphogenesis. | Menon S et al. | — | 2018 | → |
| smarce1 mutants have a defective endocardium and an increased expression of cardiac transcription factors in zebrafish. | Castillo-Robles J et al. | — | 2018 | → |
| Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders. | Sokpor G et al. | — | 2017 | → |
| Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. | Bramswig NC et al. | — | 2017 | → |
| Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. | Bidart M et al. | — | 2017 | → |
| New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. | Tang S et al. | — | 2017 | → |
| Recruitment by the Repressor Freud-1 of Histone Deacetylase-Brg1 Chromatin Remodeling Complexes to Strengthen HTR1A Gene Repression. | Souslova T et al. | — | 2017 | → |
| SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. | Errichiello E et al. | — | 2017 | → |
| Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. | Mathies LD et al. | — | 2017 | → |
| A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. | Smith JA et al. | — | 2016 | → |
| ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. | Mignot C et al. | — | 2016 | → |
| Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. | Miyake N et al. | — | 2016 | → |
| Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. | Sonmez FM et al. | — | 2016 | → |
| De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. | Weiss K et al. | — | 2016 | → |
| Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes. | Izumi K | — | 2016 | → |
| Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. | Ben-Salem S et al. | — | 2016 | → |
| SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. | Zarate YA et al. | — | 2016 | → |
| The developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin-remodeling complex. | Lomelí H et al. | — | 2016 | → |
| Biology and Treatment of Rhabdoid Tumor. | Geller JI et al. | — | 2015 | → |
| De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. | Yu Y et al. | — | 2015 | → |
| Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling. | Cajigas I et al. | — | 2015 | → |
| Proliferation control in neural stem and progenitor cells. | Homem CC et al. | — | 2015 | → |
| Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. | Gossai N et al. | — | 2015 | → |
| Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. | López AJ et al. | — | 2015 | → |
| Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. | Roberts JL et al. | — | 2014 | → |
| Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. | Vergano SS et al. | — | 2014 | → |
| Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. | Kosho T et al. | — | 2014 | → |
| Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. | Vals MA et al. | — | 2014 | → |
| De novo SOX11 mutations cause Coffin-Siris syndrome. | Tsurusaki Y et al. | — | 2014 | → |
| DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | Campeau PM et al. | — | 2014 | → |
| Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. | Sim JC et al. | — | 2014 | → |
| Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. | Zweier C et al. | — | 2014 | → |
| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. | Kosho T et al. | — | 2014 | → |
| Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B. | Vengoechea J et al. | — | 2014 | → |
| The ARID1B phenotype: what we have learned so far. | Santen GW et al. | — | 2014 | → |
| The role of BAF (mSWI/SNF) complexes in mammalian neural development. | Son EY et al. | — | 2014 | → |
| The Scc2-Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions. | Lopez-Serra L et al. | — | 2014 | → |
| Creating a neural specific chromatin landscape by npBAF and nBAF complexes. | Staahl BT et al. | — | 2013 | → |