Clinical and Genetic Characteristics of A Large Pedigree with Autosomal Dominant Inhereditary Non-Syndromic Hearing Impairment
LIU Jinzhi
CHENG Hongbo
YANG Nian
Xu Qiyun
LIN Liqiang
GU Xiao
LI Qin
YANG Shenmin
WANG Ting
MENG Qingxia
WANG Fuxin
WANG Wei
SHI Yichao
LI Hong
Abstract：Objective To report clinical and genetic characters of a large family with autosomal dominant hereditary hear-ing loss.Methods After obtaining informed consent from the family members, we performed clinical and audiological exami-nations to rule out syndromic hearing impairment, and evaluated the inheritance mode in the family.The known deafness-asso-ciated genes were sequenced using the next-generation sequencing. Results The family had 122 members in 6 generations. Twenty four males and 12 females were found to be congenitally hearing-impaired. The mode of inheritance appeared to be au-tosomal dominant based upon the pedigree. Audiograms showed bilateral symmetric sensorineural hearing loss affecting all fre-quencies in this family.We did not find any known deafness-associated gene mutations by target sequence capture sequenc-ing technology. Conclusions Pedigree analysis indicates an autosomal dominant hereditary pattern in this family. Hearing loss in this family is congenital, bilateral, symmetric and sensorineural.The known deafness genes do not seem to contribute to the pathogenesis of the hearing loss in this family, suggesting involvement of new gene(s).
Keywords：Autosomal dominant inheritancehearing losshearing testPedigreeGene mutation
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 571-574 )