2. Academic Validation
  3. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

  • Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.
Gijs W E Santen 1,  Emmelien Aten,  Yu Sun,  Rowida Almomani,  Christian Gilissen,  Maartje Nielsen,  Sarina G Kant,  Irina N Snoeck,  Els A J Peeters,  Yvonne Hilhorst-Hofstee,  Marja W Wessels,  Nicolette S den Hollander,  Claudia A L Ruivenkamp,  Gert-Jan B van Ommen,  Martijn H Breuning,  Johan T den Dunnen,  Arie van Haeringen,  Marjolein Kriek
Affiliations

Affiliation

  • 1 Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [email protected]
PMID: 22426309 DOI: 10.1038/ng.2217
Abstract

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.

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