一个遗传性听力损失家系TNC耳聋基因突变分析
Mutation analysis of TNC gene in a familial hearing loss pedigree
梁飞 1刘俊平 1詹小燕 1杨彬彬 1陈缪安 1郑燕华1
作者信息
- 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
- 折叠
摘要
目的 探讨一个遗传性听力损失家系的TNC耳聋基因突变情况及其与临床表型的关系.方法 绘制家系图谱,分析遗传模式,采用听力学检查、影像学检查和前庭功能检查评估该家系成员的临床表型,采用全外显子组测序技术对该家系的6名成员进行基因检测,筛选出可能与听力损失相关的候选突变,Sanger测序验证候选突变在该家系及正常对照组中的分布情况.结果 在该家系中发现第9号染色体上TNC基因第17外显子的的杂合突变c.5110G>T(p.Ala1704Ser),该突变与遗传性听力损失存在相关性.该基因突变的携带者均表现为出生时听力正常,幼年时期听力下降;影像学检查中耳和内耳结构无异常.结论 本研究首次报道TNC基因的杂合突变c.5110G>T(p.Ala1704Ser)与遗传性听力损失的相关性,为遗传性听力损失的分子诊断和遗传咨询提供新的依据.
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.
关键词
听力损失/外显子/DNA突变分析/表型/遗传性听力损失/TNC基因/全外显子组测序/临床表型Key words
Hearing Loss/Exons/DNA Mutational Analysis/Phenotype/hereditary hearing loss/TNC gene/whole exome sequencing/clinical phenotype引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据