Jin Zhanguo, Cheng Jing, Lu Yu, Li Jianzhong, Sun Yi, Yuan Huijun, Han Dongyi
Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Feb;25(4):158-61.
To investigate the phenotype and genetic characters of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.
A Chinese pedigree associated with an autosomal-dominant inherited high-frequency sensorineural hearing loss was investigated. After obtaining informed consent from all study participants medical and audiological examination to rule out any syndromic hearing impairment. Application of microsatellite markers on DFNA 21 loci preliminary screening of 23 genes, data were analyzed by linkage analysis.
Proband of the family had been diagnosed with high-frequency sensorineural hearing loss. A Chinese family SX-H043 with non-syndromic hearing loss were ascertained. This Chinese family with late onset hearing impairment spanned four generations and comprised 43 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Hearing impairment of affected members in family SX-H043 occurred 25 to 50 years descending audiograms. Whole frequencies became involved with increasing age.
A Chinese family with late-onset high-frequency sensorineural hearing loss were clinically studied. Positive sites were not found in the known deafness loci screening. The information should facilitate future gene scan and linkage analyses for novel relative genes contributing to high-frequency sensorineural hearing loss.
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表型和遗传特征。
调查一个与常染色体显性遗传高频感音神经性听力损失相关的中国家系。在获得所有研究参与者的知情同意后，进行医学和听力学检查以排除任何综合征性听力障碍。应用微卫星标记对DFNA 21位点的23个基因进行初步筛查，通过连锁分析对数据进行分析。
该家系的先证者被诊断为高频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-H043。这个迟发性听力障碍的中国家系跨越四代，共43名成员。根据系谱，该家系的遗传方式应为常染色体显性遗传。家系SX-H043中受影响成员的听力障碍发生在25至50岁，听力图呈下降趋势。随着年龄增长，全频率均受影响。
对一个迟发性高频感音神经性听力损失的中国家系进行了临床研究。在已知耳聋位点筛查中未发现阳性位点。这些信息应有助于未来对导致高频感音神经性听力损失的新相关基因进行基因扫描和连锁分析。
