The Journal of International
Advanced Otology
Original Article

Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry


Department of Clinical Laboratory, Beijing Bo'ai Hospital, China Rehabilitation Research Center, Beijing, China


School of Rehabilitation, Capital Medical University, Beijing, China


Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, China


Bioyong Technologies Inc., Changping District, Beijing, China

J Int Adv Otol 2021; 17: 492-499
DOI: 10.5152/iao.2021.21086
Read: 356 Downloads: 128 Published: 01 November 2021

BACKGROUND: The aim of this study is to compare the spectrum and frequency of GJB2, SLC26A4, GJB3, and MT-RNR1 mutations in 4 different areas of China.
METHODS: A total of 509 patients from Linyi, Xinxiang, Yichang, and Baise were enrolled in this study. Twenty of the most common mutation sites were analyzed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
RESULTS: Patients from Yichang (in central China; 22.50%) and Linyi (in eastern China; 23.55%) carried a greater proportion of the 5 most common GJB2 mutations compared with patients from the other 2 areas surveyed, namely Xinxiang (in the North China Plain) and Baise (in south-central China). In comparison, patients from Yichang (10.00%) and Xinxiang (12.94%) had a higher prevalence of the 11 most common SLC26A4 mutations. Interestingly, only 1 patient (1.47%) from Baise was confirmed to carry the c.1229C>T mutation of SLC26A4. Among the 20 mutation sites analyzed across these 4 genes, c.235delC in GJB2 and c.919-2A>G in SLC26A4 were the most common mutations across all 4 geographical regions. The c.235delC mutation in GJB2 was significantly more prevalent in Yichang (18.13%) and Linyi (18.31%) than in the other 2 areas, whereas the c.919-2A>G allele of SLC26A4 was present at much higher frequencies in Yichang (8.44%) and Xinxiang (8.74%) compared with the other areas.
CONCLUSIONS: This study increases the available data on hearing loss-associated mutations and provides evidence of the need for risk assessment and genetic counseling of populations from these 4 areas of China.
Cite this article as: Wang Y, Chen W, Liu Z, Xing W, Zhang H. Comparison of the mutation spectrum of common deafness-causing genes in 509 patients with nonsyndromic hearing loss in four different areas of china by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. J Int Adv Otol. 2021;17(6):492-499.

EISSN 2148-3817