中华耳科学杂志Issue(4)：658-662,5.DOI:10.3969/j.issn.1672-2922.2015.04.020
非综合征型耳聋家系的遗传学特征分析
Analysis of Clinical and Genetic Characteristics of a Chinese Pedigree with Autosomal Dominant Hereditary Nonsyndromic Hearing Loss
摘要
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.关键词
家系/常染色体显性遗传/遗传性耳聋Key words
Pedigree/Autosomal dominant inheritance/Hereditary deafness分类
医药卫生引用本文复制引用
牛志杰,熊俊,冯永,孙捷,梅凌云,蒋璐,陈红胜,贺楚峰,刘亚兰,王雪萍,文杰..非综合征型耳聋家系的遗传学特征分析[J].中华耳科学杂志,2015,(4):658-662,5.基金项目
国家重大科学研究计划项目（Grant No.2014CB541702，2014CB943003）、国家自然科学基金项目（Grant No.81170923，81470705，81300833）及湖南省自然科学基金 （）
