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

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

Jingyu Li  1   2 , Shiyu Zhou  1   2 , Jiahong Pei  2 , Wanzhen Li  1   2 , Rongjie Cui  1   2 , Xiaofei Ren  1   2 , Jingru Wei  1   2 , Qian Li  2 , Baosheng Zhu  1   2   3 , Yaliang Sa  2 , Yunlong Li  1   2   3
Affiliations

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

Jingyu Li et al. Heliyon. .

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).

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Representation of solved, uncertain and unsolved subjects in total patients with hearing loss (A) categorized by language families or five main ethnicities (Han, Yi, Hani, Dai and Bai). In 287 unsolved patients, rare candidate variants were identified in 204 patients (B). Most of these rare variants were classified as VUS (variant of uncertain significance) according to ACMG guidelines.
Fig. 2
Fig. 2
Number of solved patients with hearing loss for each gene in language families (A) or ethnicities(B).
Fig. 3
Fig. 3
Distribution of causative DNA variants among solved patients from four language families (A) including Sinitic, Tibeto-Burman, Kra-Dai and Hmong-Mien, and four ethnicities (B) comprising Han, Yi, Dai and Miao from Southwestern China.
Fig. 3
Fig. 3
Distribution of causative DNA variants among solved patients from four language families (A) including Sinitic, Tibeto-Burman, Kra-Dai and Hmong-Mien, and four ethnicities (B) comprising Han, Yi, Dai and Miao from Southwestern China.
See this image and copyright information in PMC

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