一个非综合征性耳聋家系的TRIOBP基因致病性新变异  

Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness

作　　者：冯梦龙 周凯 黄蓝诚 唐凤珠[2] 瞿申红[2] 陆秋天[2] 陈睿春[2] 李凤提[2] Feng Menglong;Zhou Kai;Huang Lancheng;Tang Fengzhu;Qu Shenhong;Lu Qiutian;Cheng Ruichun;Li Fengti(Graduate School of Guangxi University of Traditional Chinese Medicine,Nanning,Guangxi 530200,China;People’s Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China)

机构地区：[1]广西中医药大学研究生院,南宁530200 [2]广西壮族自治区人民医院,南宁530021

出　　处：《中华医学遗传学杂志》2021年第5期454-457,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81960186);广西科技厅重点研发项目(AB17292089,AB1850010);广西自然科学基金(2017GXNSFAA198013);广西医疗卫生适宜技术开发与推广应用项目(S201421_05,S2017078);广西卫健委科研课题(Z20170366,Z2016593,Z2014215)。

摘　　要：目的对1个非综合征性耳聋患者家系进行遗传学分析,明确其可能的耳聋病因。方法应用基因芯片对家系成员进行耳聋基因检测,对基因芯片检测为阴性的成员行全外显子组测序,最后对家系成员中所检出的致病性变异进行Sanger测序验证。结果该家系两例患者均为非综合征性耳聋,且均存在TRIOBP基因c.3299C>A/c.5185-2A>G复合杂合变异,其父母听力正常,分别携带TRIOBP基因c.5185-2A>G和c.3299C>A的杂合变异。家系内基因变异与耳聋表型共分离,查阅相关数据库和文献均未发现以上变异的致病性报道。结论TRIOBP基因是导致非综合征性耳聋的重要遗传因素,本研究发现的c.5185-2A>G和c.3299C>A变异位点丰富了该基因的变异谱,为该耳聋家系的分子诊断及遗传咨询提供了依据。Objective To explore the genetic basis for a pedigree affected with non-syndromic hearing loss(NSHL).Methods Commercialized gene chip was applied to detect common mutations associated with congenital deafness.Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result.Candidate variants were verified by Sanger sequencing.Results Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene,namely c.3299C>A and c.5185-2A>G.Their parents had normal hearing and were both heterozygous carriers of the above variants.Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.Conclusion Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL.The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.

关 键 词：TRIOBP基因 耳聋 基因检测 新变异位点 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]