一个中国DFNA9家系的听力学及前庭功能特点

目的 分析携带COCH基因新突变的一个中国DFNA9家系成员的听力学及前庭功能特点.方法 对家系成员进行详尽的听力学及前庭功能检查,包括纯音测听、听性脑干反应、耳蜗电图;视眼动、冷热试验、旋转试验、前庭诱发性肌源性电位,评价有无听力及前庭损害.结果 该家系患者听力学检查表现为以高频下降为主的进行性感音神经性聋;前庭功能检查正常.结论 中国DFNA9家系的所有vWFA2结构域突变携带者一生中均无前庭障碍的症状,详尽的前庭功能检查正常.中国DFNA9家系的临床资料分析表明DFNA9存在基因型和表现型的相关性.

Audiological and vestibular evaluation of a Chinese DFNA9 family

Objective To analyze the clinical features of audiological and vestibular function in a Chinese DFNA9 family. Methods Comprehensive audiological and vestibular evaluation including pure tone audiometry, auditory brain-stem reponse(ABR), electrocochleogram(EcochG), oculomotor testing, caloric tests, rotational testing and vestibular e-voked myogenic potentials (VEMP), were conducted to identify the hearing and vestibular impairment. Results All affected family members shared sensorineural hearing loss. The extensive vestibular evaluation indicated that all affected members performed normally. Conclusion The predominant feature of the Chinese DFNA9 family was that all the affected subjects harboring COCH mutation in the vWFA2 domain didn't suffer the vestibular symptoms during their life time and comprehensive vestibular assessment revealed normal. There is a genotype-phenotype correlation in DFNA9.