一个X连锁显性遗传性聋家系听力学特征分析  

Audiometric Characteristics of a Chinese Family with Nonsyndromic X-Linked Hearing Loss

作　　者：韩冰[1] 王幼勤[2] 腾白玉[3] 龙墨[3] 刘宇清[2] 申晓华[2] 戴朴[1] 袁慧军[1] 

机构地区：[1]中国人民解放军总医院耳鼻咽喉科研究所,北京100853 [2]贵州省人民医院听力康复研究中心 [3]中国聋儿康复研究中心

出　　处：《听力学及言语疾病杂志》2008年第2期95-98,共4页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金资助项目(编号:30571018,30528025)

摘　　要：目的分析一个X连锁遗传性聋大家系的临床听力学特征及遗传规律。方法通过家系调查、对家系成员进行全面体查及听力学检查,总结遗传规律,绘制遗传图谱并进行听力学特征分析。结果家系成员(含已故和配偶)共计106人,家系中男性患者9人,分布于第二代和第四代,耳聋发生于5～15岁,呈进行性加重,成年(18岁)后表现为双侧对称全频下降的重度至极重度感音神经性听力下降。女性患者7人,分布于第三代,于40岁后开始出现听力下降,表现为单侧中重度或双侧轻到中度感音神经性听力下降。结论本家系的临床听力学特征及遗传系谱分析符合X连锁显性遗传。Objective To study the phenotype and genetic characteristic of a Chinese family with hereditary deafness. Methods Pedigree was drawn after genetic investigation. The most of family members were checked up , and detailed audiology examination performed （including pure tone audiometer , acoustic immittance measurement） . Vestibular function was evaluated. Results This Chinese family with late onset hearing impairment spanned five generations and comprised 106 members. The medical history and the vestibular symptoms were obtained using of a standard questionnaire. General physical examination, otoscopic examination and pure tone audiometry were performed to identify the hearing impairment and other abnormality. The affected nine males from generation Ⅱ and Ⅳ showed progressive sensorineural hearing loss with the onset from 5 to 15 years. The affected seven females manifes- ted a mild to moderate bilateral or moderate to severe unilateral hearing impairment with the delayed onset from the fourth decade of life. Oonclusion The pedigree of this family is consistent with an X-link dominant inheritance pattern.

关 键 词：X连锁 遗传性聋 听力学 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]