文章摘要
韩慕天,王改改,沈丽燕,王家雄,杨慎敏,程洪波.一遗传性耳聋家系临床特征分析及候选致病基因的突变筛查[J].南京医科大学学报,2019,(7):988~992
一遗传性耳聋家系临床特征分析及候选致病基因的突变筛查
Clinical and genetic characteristics of a large pedigree with non⁃syndromic hearing impairment
投稿时间:2018-09-30  
DOI:10.7655/NYDXBNS20190708
中文关键词: 耳聋  听力检测  常染色体显性遗传  家系  目标区域测序
英文关键词: hearing loss  hearing test  autosomal dominant inheritance  pedigree  targeted whole exome sequencing
基金项目:江苏省自然科学基金(BK20141177);江苏省医学创新团队项目(CXTDB2017013);苏州市男性生殖研究重点实验室(SZ201718);苏州市临床医学专家团队引进项目(SZYJTD201708)
作者单位
韩慕天 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
王改改 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
沈丽燕 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
王家雄 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
杨慎敏 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
程洪波 南京医科大学附属苏州医院(苏州市立医院本部)生殖与遗传中心江苏 苏州 215002 
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中文摘要:
      目的:分析一遗传性耳聋大家系的听力学特征及对候选致聋基因进行筛查。方法:通过家系调查,整理分析家系资料,绘制系谱图;对家系成员行听力学检测及全身体格检查并抽取外周血。对2例家系患者进行已知致聋基因的全外显子测序及线粒体DNA测序。结果:该家系可追溯6代97人,耳聋患者18例。系谱特征表现为世代连续传递,男女均可发病。家系分支Ⅲ2及其后代、Ⅲ4、Ⅳ20听力学表现为迟发性、渐进性的听力损失,发病年龄均在28岁左右,逐渐加重。Ⅳ20子女(V36、V37、V38、V39)幼时听力言语正常,3、4岁左右表现出听力损失,非进行性,氨基糖甙类抗生素用药史不详。经纯音测听、声导抗、听性脑干反应、耳声发射等检查,发现该家系患者均表现为中重度感音神经性听力损失(V10、V35除外,其言语交流正常,听力检测表现为高频感音神经性听力损失)。对该家系进行已知的耳聋致病基因全外显子及线粒体DNA测序结果分析发现Ⅳ21及其后代为线粒体DNA A1555G突变携带者,其余患者均无阳性发现。结论:该耳聋家系为一个非综合征型、双耳对称性感音神经性听力损失;初步分子遗传学筛查提示该家系致病基因复杂,可能为新基因突变或多基因协同作用致病。
英文摘要:
      Objective:To investigate the clinical characters of a large family with non?syndromic hereditary hearing loss,and to find the mutational genes. Methods:Clinical and audiological examinations were performed to rule out syndromic hearing impairment,and the inheritance mode of the family was evaluated. The known deafness?associated genes were sequenced by targeted next?generation sequencing. Results:The family has 97 members in 6 generations,of whom 18 persons were affected. The mode of inheritance should be autosomal dominant according to the pedigree. Audiograms showed the Ⅲ4,Ⅳ20,Ⅲ2 and his offspring of this family were late?onset,progressive non?syndromic sensorineural hearing loss. The age of onset was about 28?year?old. V10 and V35 exhibit hearing impairment in high frequencies. Ⅲ4 and her children(V36,V37,V38,V39)showed non?progressive hearing impairment at 3 and 4 year?old. We did not find any known deafness?associated gene mutations by target sequence capture sequencing technology except mitochondrial A1555G mutation in Ⅲ4 and her children(V36,V37,V38,V39). Conclusion:Pedigree analysis showed an autosomal dominant hereditary pattern in this family. Hearing loss was congenital,bilateral symmetric,and sensorineural. The known deafness genes seem not contribute to the pathogenesis of the hearing loss in this family,suggesting new gene(s) involvement.
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