Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome
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DOI：
10.1002/ajmg.a.37778
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发表时间：
2016-10-01
影响因子：
2
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
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作者：
Miyake, Noriko;Abdel-Salam, Ghada;Matsumoto, Naomichi
Coffin-Siris综合征是一种罕见的先天畸形和智力残疾综合征。至少有七个基因的突变已经被确定。在这里，我们对37例具有CSS特征的患者进行了拷贝数分析，其中外显子组测序未发现致病突变。我们鉴定了一个9p24.3-p22.2重复的患者和另一个染色体der（6）t（6;9）（p25;p21）mat的患者。这两名患者共享一个重复的15.8 Mb区域，包含46个蛋白质编码基因，包括SMARCA 2。SMARCA 2突变的显性负效应可能导致Nicolaides-Baraitser综合征。我们的结论是，他们的功能更像Coffin-Siris综合征，而不是Nicolaides-Baraitser综合征，这些功能可能是由SMARCA 2过量引起的。纯粹的9 p重复（不是由不平衡易位引起的）是罕见的。建议对具有与Coffin-Siris综合征重叠特征的患者进行拷贝数分析，以进一步确定其遗传方面。(c)2016 Wiley Periodicals，Inc.
Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8-Mb region containing 46 protein coding genes, including SMARCA2. Dominant negative effects of SMARCA2 mutations may contribute to Nicolaides-Baraitser syndrome. We conclude that their features better resemble Coffin-Siris syndrome, rather than Nicolaides-Baraitser syndrome and that these features likely arise from SMARCA2 over-dosage. Pure 9p duplications (not caused by unbalanced translocations) are rare. Copy number analysis in patients with features that overlap with Coffin-Siris syndrome is recommended to further determine their genetic aspects. (c) 2016 Wiley Periodicals, Inc.