Epidemiological investigation of hot spot gene mutations among nonsyndromic deafness patients in Guangdong
WANG Meng
ZHOU Feng
WANG Xingjun
LIN Ying
ZHU Meichan
YU Feng
Abstract：Objective To determine the molecular causes of nonsyndromic hearing loss in Guangdong for the purpos-es of screening, prevention and intervention. Methods Patients with nonsyndromic hearing loss (n=507) received microar-ray-based testing for nine hot spot mutations in four of the most common deafness-related genes. Results The incidence of genetic errors was 22.68%(115/507). Among the patients, 9.47%(48/507) showed defects in GJB2. The detection rate was 6.31%(32/507) for homozygous c.235 del C mutation, 1.58%(8/507) for heterozygous mutation, 0.20%(1/507) for homo-zygous c.299 del AT mutation, 0.40% (2/507) for heterozygous mutation and 0.99% (5/507) for composite heterozygous c.235 del C/c.299 del AT mutation. Defects in SLC26A4 were seen in 11.64%(59/507) of the cases, 3.16%(16/507) for ho-mozygous c.919-2 A>G mutation, 6.11%(31/507) for heterozygous mutation, 0.40%(2/507) for homozygous c.2168 A>G mutation, 1.38%(7/507) for heterozygous c.2168 A>G mutation, and 0.59%(3/507) composite heterozygous c.919-2 A>G/c.2168 A>G mutation. mtDNA 12SrRNA defects were detected in 1.58%(8/507) of the cases and all were m.1555A>G mu-tation. Conclusions Our results demonstrate that SLC26A4(c.919-2A>G) mutation is the primary genetic cause and GJB2 (c.235delC) mutation is a major genetic cause of nonsyndromic deafness in Guangdong.
Keywords：Non-syndromic deafnessGenetic testingGene Chip
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 644-648 )