1例遗传性迟发型耳聋大家系临床特点及其基因检测  

Clinical features and genetic detection of a family with hereditary late-onset deafness

作　　者：杨立清[1] 李星 苏雅拉图[2] 曹亚宁 白海花[1,2] 吴柒柱[1] YANG Li-qing;LI Xing;SU Ya-latu;CAO Ya-ning;BAI Hai-hua;WU Qi-zhu(the Affiliated Hospital,Inner Mongolia University for Nationalities,Tongliao 028000,China;College of Life Science,Inner Mongolia University for Nationalities,Tongliao 028000,China)

机构地区：[1]内蒙古民族大学附属医院,内蒙古通辽028000 [2]内蒙古民族大学生命科学学院,内蒙古通辽028000

出　　处：《基础医学与临床》2018年第12期1680-1685,共6页Basic and Clinical Medicine

基　　金：国家自然科学基金(81560176);内蒙古自然科学基金(2015MS0875)

摘　　要：目的探讨内蒙古地区发现的1例遗传性迟发型耳聋大家系的临床特点及其致病基因,为该类疾病的早期筛查和诊断提供依据。方法通过家系调查,对家系成员进行听力学检测及全身体格检查;绘制系谱图,整理分析家系资料;抽取外周血提取DNA;利用候选基因捕获测序方法对先证者进行127个已知基因排查性检测,将捕获到的基因突变位点进行PCR扩增和Sanger测序验证。结果该家系共6代,可追溯的有53人,耳聋患者19例,均为语后聋,表现为迟发性和渐进性听力下降,发病年龄为10～40岁,患者听力损失表现为双侧对称性轻度至重度感音神经性耳聋。先证者检测结果确定1个临床意义未明的潜在基因致病突变位点:GJB3,c. 400A>G。后续经直接测序验证,此突变位点在家系中无共分离现象。结论该遗传性迟发型耳聋家系属于常染色体显性方式遗传,从先证者检测捕获的GJB3,c. 400A>G基因突变位点不能确定为该家系的致病突变,还需进一步通过全基因组测序技术对其致病基因进行探索。Objective To investigate the clinical features and pathogenic genes from a family with hereditary late-onset deafness in Inner Mongolia and to provide evidence for the early screening and diagnosis of this disease.Methods Through family survey,conducted audiological testing and physical examination of the family members;drew a family tree,collated and analyzed the family data;extracting peripheral blood DNA;the candidate gene capture sequencing method was used to detect 127 known genes in the proband,the mutated gene loci were amplified by PCR and Sanger sequenced.Results The family consists of total of 6 generations,which dates back to the 53 people,19 people are deaf,postlingually deaf,showed delayed and progressive hearing loss,the age of onset was 10~40 years,patients with hearing loss showed bilateral symmetric mild to severe sensorineural deafness.The results of the proband identified 1 potential pathogenic loci:GJB3,c.400A>G that were not clinically clear.The sequence was verified by direct sequencing,and there was no common segregation in this family.Conclusions It is often dominant.From the proband we captured the gene mutation(GJB3,c.400A>G)and from a autosomal domi-nant deafness family detection it can not be identified as the family mutation,thus further research through a new generation of sequencing of whole genomesequencing technology is mecessary.

关 键 词：遗传性迟发型耳聋家系 候选基因捕获测序 GJB3基因 致病突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]