title: Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
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.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl
authors.forename: Gijs W E
authors.initials: GW
authors.lastname: Santen
authors.forename: Emmelien
authors.initials: E
authors.lastname: Aten
authors.forename: Yu
authors.initials: Y
authors.lastname: Sun
authors.forename: Rowida
authors.initials: R
authors.lastname: Almomani
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.forename: Maartje
authors.initials: M
authors.lastname: Nielsen
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Irina N
authors.initials: IN
authors.lastname: Snoeck
authors.forename: Els A J
authors.initials: EA
authors.lastname: Peeters
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Hilhorst-Hofstee
authors.forename: Marja W
authors.initials: MW
authors.lastname: Wessels
authors.forename: Nicolette S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: Claudia A L
authors.initials: CA
authors.lastname: Ruivenkamp
authors.forename: Gert-Jan B
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: Arie
authors.initials: A
authors.lastname: van Haeringen
authors.forename: Marjolein
authors.initials: M
authors.lastname: Kriek
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D042002:Chromatin Assembly and Disassembly / Q000235:genetics*; D056915:DNA Copy Number Variations; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009333:Neck / Q000002:abnormalities; D017384:Sequence Deletion; D013064:Speech Disorders / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C497837:ARID1B protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors