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

被引：280

作者：

Santen, Gijs W. E. ^{[1
]}

Aten, Emmelien ^{[1
]}

Sun, Yu ^{[1
]}

Almomani, Rowida ^{[1
]}

Gilissen, Christian ^{[2
,3
]}

Nielsen, Maartje ^{[1
]}

Kant, Sarina G. ^{[1
]}

Snoeck, Irina N. ^{[4
]}

Peeters, Els A. J. ^{[4
]}

Hilhorst-Hofstee, Yvonne ^{[1
]}

Wessels, Marja W. ^{[5
]}

den Hollander, Nicolette S. ^{[1
]}

Ruivenkamp, Claudia A. L. ^{[1
]}

van Ommen, Gert-Jan B. ^{[1
]}

Breuning, Martijn H. ^{[1
]}

den Dunnen, Johan T. ^{[1
,6
]}

van Haeringen, Arie ^{[1
,7
]}

Kriek, Marjolein ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands

[2] Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[4] Haga Teaching Hosp, Juliana Childrens Hosp, Dept Child Neurol, The Hague, Netherlands

[5] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[6] Leiden Univ, Leiden Genome Technol Ctr, Med Ctr, Leiden, Netherlands

[7] Haga Teaching Hosp, Juliana Childrens Hosp, Dept Clin Genet, The Hague, Netherlands

来源：

NATURE GENETICS | 2012年 / 44卷 / 04期

关键词：

DNA-SEQUENCING DATA; FRAMEWORK;

D O I：

10.1038/ng.2217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：379 / 380

页数：2

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