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 brainstem reponse(ABR),electrocochleogram(EcochG),oculomotor testing,caloric tests,rotational testing and vestibular evoked 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.