Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

被引：4

作者：

Kang, Baoling ^{[1
]}

Lu, Xinshu ^{[1
]}

Xiong, Jianjun ^{[1
,2
]}

Li, Yuan ^{[3
]}

Zhu, Jinwen ^{[1
]}

Cai, Tao ^{[1
]}

机构：

[1] Beijing Angel Gene Med Technol Co Ltd, Beijing, Peoples R China

[2] Jiujiang Univ, Coll Basic Med Sci, Jiujiang, Peoples R China

[3] China Japan Friendship Hosp, Beijing, Peoples R China

来源：

FRONTIERS IN GENETICS | 2022年 / 13卷

关键词：

hearing loss; Cdh23; autosomal recessive; mutation; exome sequencing; USHER; MUTATION;

D O I：

10.3389/fgene.2022.1027396

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：7

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