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

韩冰;王幼勤;腾白玉;龙墨;刘宇清;申晓华;戴朴;袁慧军;

1:中国人民解放军总医院耳鼻咽喉科研究所

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

4:中国聋儿康复研究中心

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。
关键词
X连锁;遗传性聋;听力学
基金项目(Foundation):
国家自然科学基金资助项目(编号:30571018,30528025)
作者
韩冰;王幼勤;腾白玉;龙墨;刘宇清;申晓华;戴朴;袁慧军;
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