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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
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Journal Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
2012
Overview
Gijs Santen and colleagues report mutations in the SWI/SNF subunit gene
ARID1B
in Coffin-Siris syndrome.
We identified
de novo
truncating mutations in
ARID1B
in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing
ARID1B
in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the
ARID1B
gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Abnormalities, Multiple - genetics
/ Analysis
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Child
/ Chromatin Assembly and Disassembly - genetics
/ Diseases of the osteoarticular system
/ DNA-Binding Proteins - genetics
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Hand Deformities, Congenital - genetics
/ Humans
/ Intellectual Disability - genetics
/ Male
/ Malformations and congenital and or hereditary diseases involving bones. Joint deformations
/ Mutation
