Li Hongbo, Cheng Jing, Lu Yu, Li Zhengyue, Jia Jingjie, Yuan Huijun, Han Dongyi
Department of Otorhinolaryngology-Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 May;26(9):414-7, 421.
To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.
Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed.
The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age.
Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.
研究一个常染色体显性遗传高频感音神经性听力损失的中国家系的临床及遗传学特征。
调查后绘制系谱图。对15名家庭成员进行检查，并进行详细的听力学检查。
该家系先证者被诊断为感音神经性听力损失。确定了一个非综合征性听力损失的中国家系SX-G087。根据调查信息，该家系的遗传模式为常染色体显性遗传。受累成员表现为语后、进行性、双侧中度至重度感音神经性听力障碍。发病年龄在20至35岁之间。听力损失始于高频，随着年龄增长低频也受累。
系谱分析提示该家系为常染色体显性遗传模式。该信息应有助于对该家系致病基因进行连锁分析和定位克隆。
