Mutation analysis of TNC gene in a familial hearing loss pedigree
10.16066/j.1672-7002.2024.11.007
- VernacularTitle:一个遗传性听力损失家系TNC耳聋基因突变分析
- Author:
Fei LIANG
1
;
Junping LIU
;
Xiaoyan ZHAN
;
Binbin YANG
;
Miao'an CHEN
;
Yanhua ZHENG
Author Information
1. 福建医科大学附属闽东医院耳鼻咽喉头颈外科,福建 福安 355000
- Keywords:
Hearing Loss;
Exons;
DNA Mutational Analysis;
Phenotype;
hereditary hearing loss;
TNC gene;
whole exome sequencing;
clinical phenotype
- From:
Chinese Archives of Otolaryngology-Head and Neck Surgery
2024;31(11):712-716
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE Exploring the TNC gene mutations in a family with hereditary hearing loss and their relationship with clinical phenotypes.METHODS Draw the family pedigree chart,analyze the inheritance pattern,and assess the clinical phenotypes of family members using audiologic,imaging,and vestibular function tests.Perform whole exome sequencing on six members of the family to identify candidate mutations potentially related to hearing loss,and validate the distribution of these candidate mutations within the family and in normal controls using Sanger sequencing.RESULTS A heterozygous mutation c.5110G>T(p.Ala1704Ser)in exon 17 of the TNC gene on chromosome 9 was identified in the family.This mutation is associated with hereditary hearing loss.Carriers of this gene mutation all presented with normal hearing at birth and hearing decline during childhood;imaging examinations showed no abnormalities in the middle ear or inner ear structures.CONCLUSION This study reports for the first time the association between the heterozygous mutation c.5110G>T(p.Ala1704Ser)in the TNC gene and hereditary hearing loss,providing new evidence for molecular diagnosis and genetic counseling in cases of hereditary hearing loss.
