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目的分析携带凝血因子 C 同源物(coagulation factor c homology,COCH)基因新突变的中国常染色体显性遗传非综合征型聋(autosomal dominant non-syndromic sensorineural hearing loss,DFNA)9家系成员的听力学及前庭功能特点。方法对家系成员进行纯音测听、听性脑干反应、耳蜗电图等听力学及计算机动态姿势描记、前庭诱发性肌源性电位、视眼动、前庭眼动等前庭功能检查。结果听力学检查提示该家系患者20～50岁出现以高频下降为主的进行性感音神经性聋,60～70岁进展为重至极重度全频听力损失。前庭功能检查提示随意抽取的家系中耳聋患者计算机动态姿势描记、视眼动、温度试验正常;前庭诱发性肌源性电位检查提示耳聋患者耳石功能异常;速度阶梯试验时间常数异常、正弦谐波试验增益和相位异常,提示耳聋患者水平半规管功能减弱。结论中国DFNA9家系的所有耳聋患者均无前庭功能损害的主诉,通过详尽的前庭功能检查提示位于 COCH 非胶原结构糖蛋白 A 型2结构域上的突变所导致的前庭功能损害明显轻于位于 LCCL 结构域上的突变。中国 DFNA9家系的临床资料分析首次表明 DFNA9存在基因型和表现型的相关性。
Objective To analyze the audiology of 9 members of Chinese autosomal dominant non-syndromic sensorineural hearing loss (DFNA) carrying a novel mutation in coagulation factor c homology (COCH) gene And vestibular features. Methods The members of the pedigree were examined by pure tone audiometry, auditory brainstem response, auditory cochlear electrogram and computer dynamic posture tracings, vestibular evoked myogenic potential, oculomotor activity, vestibular eye movement and other vestibular function tests. Results The audiology examination showed that the pediatric patients had sensory neurotic deafness in the age range from 20 to 50 years. The majority of patients aged 60-70 years had severe to severe full-range hearing loss. Vestibular function tests prompted random extraction of family deafness in patients with computer dynamic posture tracings, depending on the ocular motion, temperature test was normal; vestibular myogenic potential test showed that patients with deafness otolith dysfunction; speed ladder test time constant anomalies, sinusoidal harmonics Experimental gain and phase anomalies, suggesting that patients with deafness semicircular canal function weakened. CONCLUSIONS: All cases of deafness in the Chinese DFNA9 pedigree have no complaints of vestibular dysfunction. A detailed examination of the vestibular function suggests that the damage to the vestibular function caused by mutations in the COCH non-collagenous glycoprotein type A domain 2 is significantly lighter than that in the LCCL structure Mutation in the domain. The clinical data analysis of the Chinese DFNA9 pedigree showed for the first time that there was a correlation between genotype and phenotype of DFNA9.