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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

机译：三种肌瘤突变在一个中国家庭中鉴定，具有常染色体隐性非合成瘤性听力损失

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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.
机译：听力障碍是最常见的感官疾病之一，其中超过50％归因于遗传病因。该研究的目标是探讨被排除在GJB2，SLC26A4或MTDNA12SRRNA变体之外的中文耳聋血统的遗传原因。通过靶向捕获测序和Sanger测序确定三个变体C.4971C> A（P.A1324D），C.4011 insa（P.Q1337QFS * 22）和C.9690 + 1G> A，以及Sanger测序他们前两个是新颖的。这些变体与该家庭中的疾病进行了Cousegregated，在200个正常听力人员中缺席。通过系统发育分析和结构建模，总结它们是致病性突变。因此，SNPSCAN测定和靶向捕获测序的组合使用是遗传性听力损失的高效率和经济效益的筛选程序。遗传咨询对于这个家庭来说很重要，我们的发现将是Myo15a的突变谱的伟大补充。

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