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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。
Objective To analyze the audiology and vestibular function of a Chinese DFNA9 pedigree carrying a novel COCH gene mutation. Methods A detailed audiology and vestibular function tests were performed on family members, including pure tone audiometry, auditory brainstem response and cochlear electrogram; oculomotor, thermal and thermal test, rotation test, vestibular evoked myogenic potential, evaluation No hearing and vestibular damage. Results The pediatric patients with audiological examination showed high-frequency decline for the main sensorineural deafness; vestibular function tests were normal. CONCLUSION: All vWFA2 domain mutation carriers in China’s DFNA9 pedigree have no symptoms of vestibular disorder in their lifetime, and detailed examination of vestibular function is normal. Clinical data analysis of Chinese DFNA9 pedigrees showed that genotype and phenotype were associated with DFNA9.