中华耳科学杂志2011，Vol.9Issue(4)：413-416,4.
先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析
Phenotype characteristics of a Chinese family with congenital, stable, autosomal dominant non-syndromic sensorineural hearing loss
摘要
Abstract
Objective To study the phenotypes and genetic characteristics of a three-generation Chinese family with autosomal dominant inherited progressive nonsyndromic hearing loss. Methods Pedigree was drawn after the investigation. Eighteen family members were examined including detailed audiology tesing (pure tone assay, acoustic immittance testing and auditory brainstem response audiometry). One patient received temporal bone CT. Results This family was comprised of 18 members, of whom 11 were affected. One patient had a history of using aminoglycosides. The pattern of inheritance of this family was autosomal dominant based on the investigation information. The affected members showed pre-lingual, stable, bilateral moderate sensorineural hearing impairment involving all frequencies. The audiograms showed generally flat hearing loss. Conclusion Pedigree analysis suggests an autosomal dominant hereditary pattern in this family. The information from this study will facilitate linkage analysis and positional cloning for identifying the causative gene in this family.关键词
常染色体显性遗传/感音神经性耳聋/语前聋/全频/表型Key words
Autosomal dominant/Sensorineural hearing loss/Prelingually deaf/Whole frequency/Phenotype分类
医药卫生引用本文复制引用
郭亿莲,赖海彪,袁慧军,李征玥,何琦,孙一帆,徐庆文,周小军,张丽娟,王明松,孔祥廉..先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析[J].中华耳科学杂志,2011,9(4):413-416,4.基金项目
中山市科学技术研究基金:遗传性耳聋家系资源的采集及临床表型特性研究(20102A039) （20102A039）
国家自然科学基金重点项目(81030017) （81030017）
