伴眩晕的突发性聋患者GJB2基因突变分析

Mutation analysis of GJB2 gene in sudden sensorineural hearing loss patients with vertigo

目的探讨伴眩晕的突发性聋患者的GJB2基因的突变情况。方法选择2008年7月至2012年12月解放军总医院第一医学中心确诊的51例单耳突发性聋伴眩晕住院患者,行高通量基因测序,确定患者GJB2基因突变情况。结果 51例患者中,低中频听力下降型2例(治疗有效1例,无效1例),中高频听力下降型18例(治疗有效7例,无效11例),平坦型听力下降11例(治疗有效4例,无效7例)及全聋型听力下降20例(治疗有效10例,无效10例)。检测出GJB2杂合突变阳性者8例(15.69%),发现GJB2基因5种不同类型的突变位点,分别为c.608T>C(p.I203T)2例,c.109G>A(p.V37I)3例,c.571T>C(p.F191L)1例,c.235delC(p.L79C)1例和c.187G>T(p.V63L)1例。7例为极重度聋,1例为重度聋,且7例治疗均无效。结论突发性聋的发生与遗传因素可能有一定相关性,但尚待进一步研究。

Objective To investigate the mutations of GJB2 sudden hearing loss patients with vertigo.Methods A total of 51 patients diagnosed with unilateral sudden sensorineural hearing loss(SSHL)in the First Medical Center of Chinese PLA General Hospital were enrolled in the study.High-throughput sequencing was performed on 51 patients to determine the mutation status of GJB2 gene.Results Among the 51 cases,there were two cases of low-medium frequency hearing loss(one case was effective,one case was ineffective in treatment),18 cases of medium-high frequency hearing loss(seven cases were effective,11 cases were ineffective in treatment),11 cases of flat hearing loss(4 cases were effective,7 cases were ineffective in treatment),and 20 cases of total hearing loss(10 cases were effective,10 cases were ineffective in treatment).There were eight cases(15.69%)with positive GJB2 hybrid mutation.A total of five different types of GJB2 mutation sites were found,including two cases of c.608 T>c(p.I203 T),three cases of c.109 G>A(p.I 37 I),one case of c.571 T>c(p.F191 L),one case of c.235 delC(p.L79 C)and one case of c.187 G>T(p.I 63 L).Conclusions The SSHL disease maybe has some relationship with hereditary in Chinese population,but its complex genetic pathogenic mechanisms need further study.