Analysis of common mutations of deafness-related genes in 2725 newborns.
- Author:
Hong YU
1
;
Dan LIU
;
Jingqun YANG
;
Zhiqiang WU
;
Dongmei SUN
;
Wolong MA
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; Connexin 26; Connexins; genetics; Deafness; genetics; Female; Humans; Infant; Infant, Newborn; Male; Membrane Transport Proteins; genetics; Mutation; Neonatal Screening; RNA, Ribosomal; genetics
- From: Chinese Journal of Medical Genetics 2015;32(3):335-338
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for common mutations of deafness-related genes in order to determine the carrier rate, types of mutation, and their relevance to hearing loss.
METHODSFor 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry.
RESULTSAmong the 2725 newborns,149 (5.47%) were diagnosed with mutations, which included 84 (3.08%) with GJB2 mutations, 13 (0.48%) with GJB3 mutations, 49 (1.80%) with SLC26A4 mutations and 3 (0.11%) with 12S rRNA mutations. Fourteen mutational hotspots were identified. The most common mutations have included GJB2 c.235delC (65 cases), SLC26A4 IVS7-2A>G (34 cases), GJB2 c.299_300delAT (13 cases), GJB3 c.538C>T (7 cases), GJB2 c.176_191del16 (6 cases) and GJB3 c.547G>A (6 cases).
CONCLUSIONThe detecting rate for deafness-related gene mutations has been relatively high. To broaden the screening spectrum may improve such rate. Besides GJB2, 12S rRNA, SLC26A4, GJB3 also features a high mutation rate in the region.
