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Abstract：
Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families. Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members. Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W). Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss.
摘要：
背景：听力损失（HL）是人类最常见的感觉障碍形式。HL的分子诊断对于受影响的个体及其家庭的遗传咨询很重要。方法：确定潜在的遗传原因，我们对351例非综合征HL患者及其家庭成员进行了全外显子组测序和相关生物医学信息学分析.结果:在本研究中,我们报告了来自四个受影响家族的CDH23基因中的四个复合杂合变体的鉴定，包括四个新颖的变体(c.995C>A，p.T332K;c.2159G>A,p.R720Q；c.5534A>G，p.N1845S,和c.7055-1G>C）和两个经常报道的变体（c.719C>T，p.P240L和c.4762C>T，p.R1588W)。结论：我们的发现显着扩展了CDH23相关常染色体隐性听力损失的突变谱。
