Audiologic and genetic features of a Chinese family with nonsydromic autosomal dominant hearing loss associated with noise exposure
SUN Jie
HE Chufeng
NIU Zhijie
WEN Jie
FENG Yong
CHEN Hongsheng
Abstract：Objective To report audiologic and genetic features of a Chinese family with nonsydromic autosomal dominant hearing loss associated with noise exposure and establish the identification strategy of induced deafness. Meth-od A pedigree with autosomal-dominant inherited postlingual progressive bilateral sensorineural hearing loss was investi-gated. Medical and detailed audiological examination were completed in all study participants. Candidate genes were test-ed by Sanger sequencing. Results Thirteen members of the family participated in this study, and 6 showed hearing im-pairment, which mainly affected high frequencies initially, with lower frequencies becoming involved with increasing age, gradually progressing to all frequency hearing loss. The age of onset varied from 16 to 37 years. Candidate genes were preliminary excluded by Sanger sequencing. Conclusion Pedigree analysis suggests an autosomal dominant inheri-tance pattern in this family .
Keywords：autosomal-dominanthearing losshereditaryNGS
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 535-539 )