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低频相关常染色体显性遗传耳聋家系的临床与遗传学特征分析 预览

Clinical and Genetic Features of a Large Family with Autosomal Dominant Low Frequency Hearing Loss
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摘要 目的通过研究4代遗传耳聋家系,分析家系成员临床表型、遗传特征,为致病基因鉴定、遗传咨询和婚育指导提供依据。方法对家系成员进行病史调查、查体、临床听力学检测和外周静脉血样本采集,绘制遗传图谱,分析听力学特征及家系遗传规律。结果调查1507327家系共51人,发现20人存在听力损失,其中直系亲属感音神经性耳聋15人,传导性耳聋2人,混合性耳聋1人,配偶感音神经性耳聋患者2人。直系亲属感音神经性耳聋患者中:男性6人,女性9人;发病年龄8到49岁,平均31.7岁;低频听力损失型4例,全频听力损失型11例;听力损失程度轻度2例,中度4例,中重度3例,重度5例,极重度1例;随年龄(x)增加平均听阈(y)逐渐增高(y=1.180x+4.886,R2=0.618,P=0.001);各代连续发病,每一代男女均可患病;在进行过听力测试的家系成员中,Ⅱ代患病率100%(1/1),Ⅲ代患病率61.11%(11/18),Ⅳ代患病率13.04%(3/23);Ⅱ代平均发病年龄35岁,Ⅲ代平均发病年龄32.45岁,Ⅳ代平均发病年龄27.67岁。结论此耳聋家系为低频听力损失起病、逐渐加重、最终累及全频的非综合征型感音神经性耳聋。遗传方式为常染色体显性遗传,外显率逐渐降低,发病年龄逐渐提前。后续研究可针对低频相关的耳聋基因进行致病基因的鉴定。 Objective To report clinical phenotypes and genetic characteristics of a four-generation Chinese family with nonsyndromic autosomal dominant hearing loss,to provide basis for identification of pathogenic genes,genetic counseling and marriage and parenting guidance.Method Pedigree of the family was draw,audiological and genetic characteristics were evaluated following clinical studies including kindred investigation and comprehensive physical examinations.Peripheral blood samples were collected.Result In the family,20 of the 51 investigated members were found to have hearing impairment,including 15 with sensorineural hearing loss,2 with conductive hearing,1 with mixed hearing loss and 2 spouses with sensorineural hearing loss.Among the 15 family members with sensorineural hearing loss,6 were males and 9 were females,with onset ages ranging from 8 to 49 years(mean=31.7 years).Hearing loss affected low-frequencies in 4 cases and all frequencies in 11 cases.Hearing loss was mild in 2 cases,moderate in 4 cases,moderately severe in 3 cases,severe in 5 cases and extremely severe in 1 case.The average auditory threshold(y)increased gradually with age(x)(y=1.180x+4.886,R squared=0.618,P=0.001).All generations of the family were affected.Among the family members who received hearing tests,the rate of SNHL patients was 100%(1/1)in GenerationⅡ,61.11%(11/18)in GenerationⅢand 13.04%(3/23)in GenerationⅣ.The average onset age was 35 years in GenerationⅡ,32.45 years in GenerationⅢand 27.67 years in GenerationⅣ.Conclusion This Pedigree is identified to be affected by autosomal dominant hereditary hearing loss featuring low frequency involvement at onset,which continues to progress to eventually affect the full frequency range.The penetrance appears to gradually decrease,with the onset age gradually become younger.Subsequent studies may focus on identifying the causative genes for the low-frequency deafness.
作者 吴侃 王洪阳 杨驹 赵翠 兰兰 王大勇 关静 王秋菊 WU Kan;WANG Hongyang;YANG Ju;ZHAO Cui;LAN Lan;WANG Dayong;GUAN Jing;WANG Qiuju(Department of Otolaryngology-Head and Neck Surgery,Institute of Otolaryngology,Chinese PLA General Hospital,100853,Beijing,China)
出处 《中华耳科学杂志》 CSCD 北大核心 2019年第1期40-45,共6页 Chinese Journal of Otology
基金 国家自然科学基金重点项目(81530032,81830028) 国家自然科学基金面上项目(81770991) 军队医学科技青年培育计划孵化项目(19QNP058) 国家重大科学研究计划项目(2014CB943001).
关键词 常染色体显性遗传 遗传性聋 低频感音性聋 表型 家系 Autosomal Dominant Hereditary Hearing Loss Low-frequency Sensorineural Hearing Loss Phenotype Pedigree
作者简介 吴侃,硕士研究生在读,主治医师,研究方向:耳聋分子病因和临床研究;通讯作者:王秋菊,Email:wqcr301@vip.sina.com.
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