Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China

Jingyu Li; Shiyu Zhou; Jiahong Pei; Wanzhen Li; Rongjie Cui; Xiaofei Ren; Jingru Wei; Qian Li; Baosheng Zhu; Yaliang Sa; Yunlong Li

doi:10.1016/j.heliyon.2024.e38802

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China

Heliyon. 2024 Oct 2;10(20):e38802. doi: 10.1016/j.heliyon.2024.e38802. eCollection 2024 Oct 30.

Authors

Jingyu Li^{1

2}, Shiyu Zhou^{1

2}, Jiahong Pei², Wanzhen Li^{1

2}, Rongjie Cui^{1

2}, Xiaofei Ren^{1

2}, Jingru Wei^{1

2}, Qian Li², Baosheng Zhu^{1

2

3}, Yaliang Sa², Yunlong Li^{1

2

3}

Affiliations

¹ Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
² the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China.
³ National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China.

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 GJB2 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 SLC26A4, MYO7A and TMPRSS3. 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.

Keywords: Diagnostic rate; Ethnicity; Hearing loss; Next generation sequencing; Variants of unknown significance (VUS).