Audiological and Genetic Characteristics of A Family with Autosomal Dominant Hereditary Hearing Impairment
WANG Yanfei
CHENG Jing
LU Yu
ZHANG Xiuju
WANG Hui
ZUO Haiwei
ZHANG Lei
YUAN Huijun
HAN Dongyi
CUI Yong
Abstract：Objective To study the audiological and genetic characteristics of a family with autosomal dominant heredi-tary hearing impairment, and to discuss the strategy to identify the gene defect. Methods The pedigree was drawn based on the investigation of family history and audiological examinations. Results Thrty three members of the family participated in this study, and 19 showed hearing impairment.Audiological assessments of the affected individuals revealed symmetrical, bilater-al, progressive, sensorineural hearing loss, which mainly affected high frequencies in the initial phase. The onset age, though, was significantly different (ranging from10 to 60 years of age). The two branches of this family presented two different kinds of audiological characteristics. Conclusions The causative genes for the two branches in this family may be different. Therefore it’ s essential to use diverse strategies to identify the mechanisms of hearing impairment of a family with autosomal dominant he-reditary hearing impairment.
Keywords：Autosomal dominantHearing lossPedigreePhenotypeGene
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 280-282 )