Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
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DOI：
10.1155/2018/5898025
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发表时间：
2018
影响因子：
3.1
通讯作者：
Wang H
中科院分区：
文献类型：
--
作者：
Zhang F;Xu L;Xiao Y;Li J;Bai X;Wang H
听力障碍是最常见的感觉疾病之一，其中超过50%归因于遗传病因。本研究的目的是探讨一个排除GJB2、SLC26A4或MtDNA12SrRNA变异的中国人耳聋家系的遗传原因。通过靶向捕获测序和桑格测序鉴定了MYO15 A基因的3个变异体，即c.3971 C>A（p.A1324 D）、c.4011 insA（p.Q1337 Qfs 22）和c.9690+1G>A，其中前2个变异体为新变异体。这些变异与该家系的疾病共分离，而在200名听力正常者中不存在。通过系统发育分析和结构建模，它们被认为是致病突变。因此，SNPScan分析和靶向捕获测序的联合使用是一种高效且经济的遗传性听力损失筛查方法。遗传咨询对这个家庭很重要，我们的发现将是对MYO15A突变谱的一个很好的补充。
Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. These variants were cosegregated with the disease in this family and absent in 200 normal hearing persons. They were concluded to be pathogenic mutations by phylogenetic analysis and structure modeling. Thus, the combined use of SNPScan assay and targeted capture sequencing is a high-efficiency and cost-effective screening procedure for hereditary hearing loss. Genetic counseling would be important for this family, and our finding would be a great supplement to the mutation spectrum of MYO15A.
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DOI：
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发表时间：
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影响因子：
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作者：
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