Genetic and Audiological Characteristics of a Chinese Family with Autosamal Dominant Hereditary Non-syndromic Low-frequency Sensorineural Hearing Loss / 听力学及言语疾病杂志

ABSTRACT

Objective To investigate the phenotype and genetic characteristics of a Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss (LFSNHL) was investigated.After obtaining informed consent from all study participants medical and audiological examination were used to rule out any syndromic hearing impairment.Five patients were tested with DPOAE and ABR,while two patients were tested with vestibular function and computed tomography scan of the temporal bone to exclude auditory neuropathy and other possible aural disorders.Twenty-one loci and twenty-three genes of DFNA screening had been done by using microsatellite markers and linkage analysis.Results Proband of the family had been diagnosed with low-frequency sensorineural hearing loss.A Chinese family BJ-L046 with non-syndromic autosomal dominant hearing loss was ascertained.Hearing impairment in the affected members in family BJ-L046 occured from 10 to 20 years of age and mainly affected the low frequencies,causing an upsloping audiogram.Higher frequencies were getting involved with increasing age,thus causing a flat-type audiogram.No positive result was found in twenty-one loci and twenty-three genes of DFNA screening.Conclusion A Chinese family with late-onset low-frequency sensorineural hearing loss was clinically studied.No positive result was found by linkage analysis,and twenty-one loci and twenty-three genes of DFNA were preliminary excluded.