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
Affiliations
Jingyu Li
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Shiyu Zhou
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Jiahong Pei
the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Wanzhen Li
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Rongjie Cui
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Xiaofei Ren
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Jingru Wei
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Qian Li
the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China
Baosheng Zhu
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China; National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China
Yaliang Sa
the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China; Corresponding author.
Yunlong Li
Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China; the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China; National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China; Corresponding author. Department of Medical Genetics, the First People's Hospital of Yunnan Province (the Affiliated Hospital of Kunming University of Science and Technology), No.157 Jinbi Road, Kunming, 650032, Yunnan, China.
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.
