一个常染色体显性遗传非综合征性耳聋家系的CCDC50基因突变及遗传学特征分析  

Analysis of CCDC50 gene mutation and genetic characters in a family with nonsyndromic autosomal dominant hearing loss

作　　者：刘翛然[1] 韩锐[1] 武爽[1] 段玲[1] 赵静[1] 腊晓琳[1] LIU Xiaoran;HAN Rui;WU Shuang;DUAN Ling;ZHAO Jing;LA Xiaolin(The First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054,China)

机构地区：[1]新疆医科大学第一附属医院,新疆乌鲁木齐830054

出　　处：《中国优生与遗传杂志》2021年第5期684-687,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析一个非综合征性耳聋家系的CCDC50基因突变及遗传学特征。方法经知情同意,对先证者进行全身检查以及听力学和颞骨电子计算机断层扫描(CT)评估,行外周血染色体核型分析检查。分析整理先证者家系资料并绘制系谱图,采用目标序列捕获技术对先证者进行耳聋基因筛查,找到先证者的可疑致病突变位点,并用Sanger测序的方法对家系成员进行验证。结果该家系共3代7人,系谱分析该家系符合常染色体显性遗传特征。先证者颞骨CT检查见内耳结构异常,遗传性耳聋基因筛查检测到先证者CCDC50c.363A>T(p.Leu121Phe)的错义突变;Sanger测序证实该家系中4位患者均携带CCDC50c.363A>T(p.Leu121Phe)突变,经家系验证该位点突变源自母方。结论该耳聋家系符合常染色体显性遗传规律,CCDC50c.363A>T(p.Leu121Phe)突变是本家系致病的主要分子基础。该突变为日后类似疾病的诊断提供参考。Objective To investigate the CCDC50 gene mutation and genetic characters in a family with nonsyndromic hearing loss.Methods With informed consent,the proband was examined by general examination,audiology and temporal bone CT,and the karyotype of peripheral blood was analyzed.The proband’s family data were analyzed and compiled,and the pedigree was drawn.The target sequence capture technique was used to screen the proband’s deafness genes,and the suspicious mutation sites of the proband were found.The family members were verified by Sanger sequencing.Results The pedigree analysis showed that the pedigree accorded with autosomal dominant inheritance.The proband’s temporal bone CT showed abnormal structure of the inner ear,and hereditary deafness gene screening detected the proband’s missense mutation CCDC50c.363A> T(p.Leu121 Phe);Sanger sequencing confirmed that all four patients in this family with clinical phenotype carried a mutation of CCDC50c.363A> T(p.Leu121 Phe),it was proved that the mutation originated from the maternal side.Conclusion The hearing loss family meets the regulation of autosomal dominant inheritance,CCDC50c.363A>T(p.Leu121 Phe) mutation was the main molecular basis of disease in this family,this mutation provides the basis for the diagnosis of similar diseases in the future.

关 键 词：常染色体显性遗传 CCDC50基因突变 目标序列捕获测序 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]