Mutations in EZH2 Cause Weaver Syndrome
Mutations in EZH2 Cause Weaver Syndrome
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DOI：
10.1016/j.ajhg.2011.11.018
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发表时间：
2012-01-13
影响因子：
9.8
通讯作者：
Jones, Steven J. M.
中科院分区：
文献类型：
--
作者：
Gibson, William T.;Hood, Rebecca L.;Jones, Steven J. M.
我们使用基于三组的全外显子组测序分析了受韦弗综合征影响的两个家族，包括1974年报道的一个原始家族。对受影响先证中罕见变异的亲本变异进行筛选，发现zeste同源物2增强子（EZH2）中有两种不同的新生突变。在第三个典型受影响先证中对EZH2进行Sanger测序，鉴定出该基因的第三个从头突变。这些数据表明EZH2突变导致韦弗综合征。
We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the enhancer of zeste homolog 2 (EZH2). Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome.