Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
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中国家庭中新型 GJB2 显性突变导致的语前感音神经性听力损失
DOI：
10.1155/2020/6370386
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发表时间：
2020-01-22
影响因子：
--
通讯作者：
Dai, Pu
中科院分区：
文献类型：
--
作者：
Huang, Shasha;Gao, Xue;Dai, Pu
背景资料。GJB2突变是遗传性耳聋最常见的原因。许多致病变异已经被鉴定，因此，越来越少的新的致病变异有待鉴定。在这里，我们描述了一个新的致病变异相关的显性遗传性耳聋在中国家庭。方法：研究方法。在这项研究中，我们检查了一个患有听力损失的中国家庭(M127)的四代人。进行了颞叶CT扫描、全身体格检查(包括皮肤和头发)和听力学测试。靶向下一代和桑格测序被用来识别受影响个体的致病突变。结果。所有患者均表现为语前非综合征性感音神经性听力损失，其严重程度从中度到重度不等。一个新的显性致病变异体c.205T>；C(p.Phe69Leu)在该家系所有患者中被发现。结论。C.205T>；C(p.Phe69Leu)是一种新的显性GJB2致病变异，与语前非综合征性感音神经性聋相关。
Background. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods. In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss.