Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
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DOI：
10.1038/hgv.2017.27
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发表时间：
2017
影响因子：
1.5
通讯作者：
Xiao H
中科院分区：
文献类型：
--
作者：
Chen D;Zhao N;Wang J;Li Z;Wu C;Fu J;Xiao H
Waardenburg综合征（WS）是一种显性遗传、遗传异质性的先天性耳聋-色素性耳聋综合征，以非进行性感音神经性听力损失和虹膜变色为特征。通过全外显子组测序（WES），我们在PAX 3基因中发现了一个无义突变（c.598C>T），计算机模拟分析预测该突变是导致疾病的原因。这是首次用WES和计算机功能预测方法在中国人中诊断出的WS PAX 3 c.598C>T无义突变病例。
Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.