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
复制标题
DOI：
10.1038/ng.2217
复制
发表时间：
2012-04-01
期刊：
影响因子：
30.8
通讯作者：
Kriek, Marjolein
中科院分区：
文献类型：
--
作者：
Santen, Gijs W. E.;Aten, Emmelien;Kriek, Marjolein
我们通过外显子组测序在三名 Coffin-Siris 综合征 (CSS) 患者中发现了 ARID1B 的从头截短突变。对 2,000 名智力障碍人士进行的基于芯片的拷贝数变异 (CNV) 分析显示，3 名受试者中包含 ARID1B 缺失，其表型与 CSS 部分重叠。结合已发表的数据，这些结果表明 ARID1B 基因（编码染色质结构的表观遗传修饰剂）的单倍体不足是 CSS 的重要原因，并且可能是智力障碍和言语障碍的常见原因。
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.