遗传性中频听力下降家系遗传学特征分析

Clinical and Genetic Investigation of A Large Chinese Kindred with Hereditary Mid Frequency Hearing Loss

目的:分析一个中国遗传性中频听力下降家系的临床听力学特征并探讨其遗传学规律。方法:通过家系调查,对家系成员进行全身系统检查及临床听力学检测,分析遗传规律,绘制遗传图谱并进行听力学特征分析。结果:此耳聋家系成员共计8人,其先证者为感音神经性聋,无全身其他系统异常。耳聋遗传方式为常染色体显性遗传,听力表型为迟发型、以中频下降为主的听力损失。结论:该家系遗传学特征分析符合常染色体显性遗传非综合征型中频听力下降家系,为后续针对此家系进行候选基因突变筛查、连锁分析及致病基因的定位与克隆研究奠定了基础。

Objective： To analyze and characterize the phenotype and genetics of Chinese kindred with mid-frequency hearing loss.Methods： Pedigree was drawn after investigation.Eight family members were checked up,and detailed audiological examination were preformed,（including pure tone assay,acoustic immittance measurement）.Results： The proband of the kindred had been diagnosed with senserineural hearing loss.The pattern of the family was autosomal dominant based on the investigated information.Common phenotypie features shared among affected family members included bilateral involvement and postlingual,moderate to severe sensorineural hearing loss affecting mainly mid frequencies.Conclusions： Pedigree analysis suggests an autosomal dominant hereditary pattern in this family with predominantly mid frequency hearing loss.The information may be important for future molecular linkage studies and identification of genes contributing to autosomal dominant hearing loss.