Coffin–Siris syndrome is a SWI/SNF complex disorder
- 1 July 2013
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 85 (6), 548-554
- https://doi.org/10.1111/cge.12225
Abstract
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.This publication has 15 references indexed in Scilit:
- De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodNature Genetics, 2013
- SWI/SNF complex in disorderEpigenetics, 2012
- SWI/SNF Chromatin-remodeling Factors: Multiscale Analyses and Diverse FunctionsOnline Journal of Public Health Informatics, 2012
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeNature Genetics, 2012
- Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual DisabilityAmerican Journal of Human Genetics, 2012
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeNature Genetics, 2012
- SWI/SNF nucleosome remodellers and cancerNature Reviews Cancer, 2011
- Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition SyndromeAmerican Journal of Human Genetics, 2010
- A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndromeJournal of the American Academy of Dermatology, 2008
- Truncating mutations of hSNF5/INI1 in aggressive paediatric cancerNature, 1998