Objective:To identify the pathogenic gene mutation of two patients with non-syndromic deafness（NSHL）. Methods:Two patient with NSHL and their parents were selected in the research object. Each participant provided 3-5 mL of peripheral venous blood, which was used to establish a DNA library. Next generation sequencing was used to detect the sequence of the patient's genome, and the sequencing results were compared with the human genome sequence （GRCh）37/hg19. Sanger sequencing was used to verify the parents' genome sequence. Finally the patient's pathogenic gene mutation was confirmed.Amino acid conservatism and single nucleotide polymorphisms of the mutant sites were analyzed using a variety of databases and software. Results:The mutation was located to CDH23 gene in the chromosomal location 10q21-q22. Complex heterozygous mutations consist of c. 1343T>C and c. 7991_7993delTCA. Parents are heterozygous carriers of a single mutation. Conclusion:The next generation sequencing technology were used to screen the pathogenic gene mutation of inherited deafness. Combined with the genetic sequencing results of parents, the specific pathogenic gene mutation of deafness patients can be identified. While the pathogenicity of complex heterozygous mutation were explained by various pathogenicity analysis methods.

中文翻译：

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[CDH23基因复合杂合突变导致的非综合征性耳聋]。

目的：鉴定2例非综合征性耳聋（NSHL）患者的致病基因突变。方法：选取2例NSHL患者及其父母作为研究对象。每位参与者提供3-5毫升外周静脉血，用于建立DNA文库。采用二代测序检测患者基因组序列，测序结果与人类基因组序列（GRCh）37/hg19进行对比。Sanger测序用于验证父母的基因组序列。最终确定了患者的致病基因突变。利用多种数据库和软件对突变位点的氨基酸保守性和单核苷酸多态性进行分析。结果：CDH23基因突变位于染色体10q21-q22位点。复杂的杂合突变由c组成。1343T>C 和 c。7991_7993delTCA。父母是单一突变的杂合子携带者。结论：采用二代测序技术筛查遗传性耳聋的致病基因突变。结合父母的基因测序结果，可以确定耳聋患者的特定致病基因突变。而复杂杂合突变的致病性则通过各种致病性分析方法来解释。可以识别耳聋患者的特定致病基因突变。而复杂杂合突变的致病性则通过各种致病性分析方法来解释。可以识别耳聋患者的特定致病基因突变。而复杂杂合突变的致病性则通过各种致病性分析方法来解释。