单位：[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
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.
基金：
Audiology Development Foundation of China; China Disabled Person's Federation [53100000500017757XA19013]; [20ZC035]
第一作者单位：[1]Beijing Angel Gene Med Technol Co Ltd, Beijing, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Kang Baoling,Lu Xinshu,Xiong Jianjun,et al.Identification of four novel variants in the CDH23 gene from four affected families with hearing loss[J].FRONTIERS IN GENETICS.2022,13:doi:10.3389/fgene.2022.1027396.
APA：
Kang, Baoling,Lu, Xinshu,Xiong, Jianjun,Li, Yuan,Zhu, Jinwen&Cai, Tao.(2022).Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.FRONTIERS IN GENETICS,13,
MLA：
Kang, Baoling,et al."Identification of four novel variants in the CDH23 gene from four affected families with hearing loss".FRONTIERS IN GENETICS 13.(2022)
