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

• Published in: Heliyon 2024-10, Vol.10 (20), p.e38802, Article e38802
• Main Authors: Li, Jingyu, Zhou, Shiyu, Pei, Jiahong, Li, Wanzhen, Cui, Rongjie, Ren, Xiaofei, Wei, Jingru, Li, Qian, Zhu, Baosheng, Sa, Yaliang, Li, Yunlong
• Format: Article
• Language: English
• Subjects: Diagnostic rate; Ethnicity; Hearing loss; Next generation sequencing; Variants of unknown significance (VUS)
• ISSN: 2405-8440; 2405-8440
• DOI: 10.1016/j.heliyon.2024.e38802

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. •Yunnan province, situated in southwestern China, is characterized by its diverse multi-ethnic population.•The study made a first comprehensive investigation on hearing loss genes in patients with hearing Loss of this region involving 4 Language Families of 15 Ethnicities.•The hearing loss diagnostic rate varied around 10 % across different language families of this region.•A large number of variants of unknown significance (VUS) were identified in unsolved patients.•This underscores the critical need for establishing ethnicity-specific genomic databases for hearing loss.