Spectrum of DNA Variants for Patients with Hearing Loss in 4 Language Families of 15 Ethnicities from Southwestern China

Overview

Journal Heliyon

Specialty Social Sciences

Date 2024 Dec 6

PMID 39640791

Authors

Jingyu Li

Shiyu Zhou

Jiahong Pei

Wanzhen Li

Rongjie Cui

Xiaofei Ren

Jingru Wei

Qian Li

Baosheng Zhu

Yaliang Sa

Yunlong Li

Affiliations

Soon will be listed here.

Abstract

Hearing loss is a common disease. More than 100 genes have been reported to be associated with hereditary hearing loss. However, the distribution of these genes and their variants across diverse populations remains unclear. In this study, we gathered 347 hearing-impaired patients from four language families (Sinitic, Tibeto-Burman, Kra-Dai, and Hmong-Mien) in Southwestern China, excluding cases caused by common mutations in the gene. By using next generation sequencing, 122 genes associated with hereditary hearing loss were analyzed on these patients. Rare candidate variants were identified in 71.93 % (264/347) of patients with hearing loss. The diagnostic rate varied around 10 % across different language families. The most frequently identified causative genes in successfully diagnosed cases were , and . Moreover, a substantial number of variants of unknown significance (VUS) were identified in our patient cohort. This underscores the critical need for establishing ethnicity-specific genomic databases for hearing loss. It will significantly improve the clinical diagnostic rate for hearing loss in this region.

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