Analysis of Clinical and Genetic Characteristics of a Chinese Pedigree with Autosomal Dominant Hereditary Nonsyndromic Hearing Loss
Niu Zhijie
Sun Jie
Mei Lingyun
Jiang Lu
Cheng Hongsheng
He Chufeng
Liu Yalan
Wang Xueping
Wen Jie
Xiong Jun
Feng Yong
Abstract：Objective To study clinical and genetic characteristics of a large Chinese pedigree with autosomal domi-nant nonsydromic hearing loss, and to report screening results in this pedigree on common causative genes. Methods After obtaining informed consents from all participants, deafness-questionnaires were administered to collect detailed medical his-tories. Clinical presentations, otoscopy findings and pure-tone audiometry were used to rule out syndromic hearing loss. The pedigree was plotted based on the genetic and audiology characteristics of this family. A deafness-screening kit was used to screen for eight common mutations of three deafness genes (GJB2, SLC26A4 and 12S rRNA) and the whole MTDNA to ex-clude known pathogenic mutations. Results Thirty five family members were alive in this five-generations family with auto-somal-dominant hearing loss, and 10 were found to be hearing-impaired. Most of the patients showed moderate to severe pre-lingual sensorineural hearing loss affecting predominantly mid frequencies with slow progression to all frequencies. Au-diometric configurations were characterized by“U”shaped or“island”patterns. No specific causative mutations were identi-fied by screening. Conclusions Pedigree analysis in this family confirms an autosomal dominant inheritance pattern, in which affected members show pre-lingual, symmetry, gradually-progressive hearing impairment. Future studies using whole-exome sequencing is planned to further explore disease-causing genes in this family.
Keywords：PedigreeAutosomal dominant inheritanceHereditary deafness
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 658-662 )