常染色体显性遗传耳聋家系听力学及遗传学特征分析

Audiological and Genetic Characteristics of A Family with Autosomal Dominant Hereditary Hearing Impairment

目的分析一个常染色体显性遗传性耳聋家系的听力学及遗传学特征,制定致聋基因鉴定策略。方法对该常染色体显性遗传性耳聋家系进行问卷调查,听力学检测,绘制该耳聋家系的遗传图谱,分析其听力学及遗传学特征。结果该家系共5代,进行听力学检测者为33人,听力下降者19人.听力学表现为双侧对称的感音神经性耳聋,以高频听力损失为主,听力损失呈进行性加重,但该家系内2个不同分支听力下降时间明显不同,分别为10-30岁和60岁。该家系A组符合常染色体显性遗传感音神经性耳聋特点,B组符合显性遗传老年性聋特点。结论这个家系的两组成员分别表现出2种不同的听力学表型。A组成员为高频听力下降为主的感音神经性耳聋,符合常染色体显性遗传非综合征型耳聋特点;B组成员为高频听力下降为主的老年性聋,符合显性遗传规律,这2组成员可能分别由不同的致病基因导致,需要根据各自的听力学表型及遗传学特征分别制定耳聋基因筛查策略。

Objective To study the audiological and genetic characteristics of a family with autosomal dominant heredi-tary hearing impairment, and to discuss the strategy to identify the gene defect. Methods The pedigree was drawn based on the investigation of family history and audiological examinations. Results Thrty three members of the family participated in this study, and 19 showed hearing impairment.Audiological assessments of the affected individuals revealed symmetrical, bilater-al, progressive, sensorineural hearing loss, which mainly affected high frequencies in the initial phase. The onset age, though, was significantly different （ranging from10 to 60 years of age）. The two branches of this family presented two different kinds of audiological characteristics. Conclusions The causative genes for the two branches in this family may be different. Therefore it’ s essential to use diverse strategies to identify the mechanisms of hearing impairment of a family with autosomal dominant he-reditary hearing impairment.