Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families

• Published in: Genetic testing and molecular biomarkers Vol. 29; no. 5; p. 131
• Main Authors: Xiao, Yuanyuan, Wang, Li, Zhou, Cong, Xie, Hanbing, Huang, Shuang, Wang, Jing, Liu, Shanling
• Format: Journal Article
• Language: English
• Published: United States 01.05.2025
• Subjects: Adolescent; Adult; Alleles; Child; China; Connexin 26 - genetics; Connexins - genetics; East Asian People; Female; Gene Frequency - genetics; Genetic Predisposition to Disease; Genetic Testing - methods; Hearing Loss - genetics; Humans; Male; Mutation - genetics; Myosins - genetics; Pedigree; Sulfate Transporters - genetics; China; genetic diseases; hearing loss; next-generation sequence

Inherited hearing loss is an extremely heterogeneous and often ethnicity-specific disorder, with more than 150 genes identified to date. Thus, clinical diagnosis is challenging, particularly because of the thousands of different severe causal mutations between populations. In this study, we aimed to...