CAJ | 학술논문

一常染色体显性遗传性耳聋家系基因的突变筛查及分析
일상염색체현성유전성이롱가계기인적돌변사사급분석
Clinical and Genetic Characteristics of A Large Pedigree with Autosomal Dominant Inhereditary Non-Syndromic Hearing Impairment

万方数据

中华耳科学杂志中華耳科學雜誌 중화이과학잡지
CHINESE JOURNAL OF OTOLOGY
2013年 4期 571-574 ,共4页

刘金枝%程洪波%杨念%徐启云%林立强%顾晓%李钦%杨慎敏%王挺%孟庆霞%王馥新%王玮%史轶超%李红

류금지%정홍파%양념%서계운%림립강%고효%리흠%양신민%왕정%맹경하%왕복신%왕위%사질초%리홍

常染色体显性遗传%听力检测%耳聋%基因突变%家系常染色體顯性遺傳%聽力檢測%耳聾%基因突變%傢繫
상염색체현성유전%은력검측%이롱%기인돌변%가계
Autosomal dominant inheritance%hearing loss%hearing test%Pedigree%Gene mutation

目的：对一常染色体显性遗传聋大家系的听力学特征及遗传学特征进行分析。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，抽取外周血；绘制系谱图，整理分析家系资料；提取外周血DNA。对2例家系患者进行已知耳聋致病基因的全外显子测序。结果该家系共6代，可追朔的有122人，耳聋患者26例。系谱特征表现为世代连续传递，男女均可发病，且耳聋患者的后代有50%左右的发病率，符合常染色体显性遗传特征。听力学表现为：先天性、双侧对称性、感音神经性全频听力损失。已知的耳聋致病基因全外显子及线粒体DNA测序结果分析均无阳性发现。结论该耳聋家系为一个先天性非综合征型、常染色体显性遗传，双耳对称性感音神经性全频听力损失；初步分子遗传学筛查提示该家系可能为新基因突变所致病。
목적：대일상염색체현성유전롱대가계적은역학특정급유전학특정진행분석。방법통과가계조사，대가계성원진행은역학검측급전신체격검사，추취외주혈；회제계보도，정리분석가계자료；제취외주혈DNA。대2례가계환자진행이지이롱치병기인적전외현자측서。결과해가계공6대，가추삭적유122인，이롱환자26례。계보특정표현위세대련속전체，남녀균가발병，차이롱환자적후대유50%좌우적발병솔，부합상염색체현성유전특정。은역학표현위：선천성、쌍측대칭성、감음신경성전빈은력손실。이지적이롱치병기인전외현자급선립체DNA측서결과분석균무양성발현。결론해이롱가계위일개선천성비종합정형、상염색체현성유전，쌍이대칭성감음신경성전빈은력손실；초보분자유전학사사제시해가계가능위신기인돌변소치병。
Objective To report clinical and genetic characters of a large family with autosomal dominant hereditary hear-ing loss.Methods After obtaining informed consent from the family members, we performed clinical and audiological exami-nations to rule out syndromic hearing impairment, and evaluated the inheritance mode in the family.The known deafness-asso-ciated genes were sequenced using the next-generation sequencing. Results The family had 122 members in 6 generations. Twenty four males and 12 females were found to be congenitally hearing-impaired. The mode of inheritance appeared to be au-tosomal dominant based upon the pedigree. Audiograms showed bilateral symmetric sensorineural hearing loss affecting all fre-quencies in this family.We did not find any known deafness-associated gene mutations by target sequence capture sequenc-ing technology. Conclusions Pedigree analysis indicates an autosomal dominant hereditary pattern in this family. Hearing loss in this family is congenital, bilateral, symmetric and sensorineural.The known deafness genes do not seem to contribute to the pathogenesis of the hearing loss in this family, suggesting involvement of new gene(s).