Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
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DOI：
10.1038/ng.2219
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发表时间：
2012-04-01
期刊：
影响因子：
30.8
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
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作者：
Tsurusaki, Yoshinori;Okamoto, Nobuhiko;Matsumoto, Naomichi
通过外显子组测序，我们发现新发SMARCB 1突变在两个典型的Coffin-Siris综合征（CSS），一种罕见的常染色体显性遗传异常综合征的五个人。由于SMARCB 1编码SWItch/蔗糖非发酵（SWI/SNF）复合物的一个亚基，我们在23名CSS患者中筛选了编码该复合物亚基的其他15个基因。20名受影响的个体（87%）在6个SWI/SNF亚基基因中的一个中存在生殖系突变，包括SMARCB 1，SMARCA 4，SMARCA 2，SMARCE 1，ARID 1A和ARID 1B。
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.