CDH23基因复合杂合突变致Usher综合征的临床表型研究  

Clinical phenotype in an Usher syndrome family with compound heterozygous mutations of CDH23

作　　者：代艾艾 刘铁城[1] 高旭辉[1] 李淑贤[1] 

机构地区：[1]解放军总医院眼科,北京100853

出　　处：《解放军医学院学报》2016年第5期486-490,共5页Academic Journal of Chinese PLA Medical School

基　　金：海南省医药卫生科研项目(琼卫2013重点-12号)~~

摘　　要：目的研究Usher综合征家系成员的表型特征,确定其临床分型,并筛选可疑致病基因突变。方法本研究家系采自河南省济源市,该家系3代共9名成员(2名患者,7名非患者),详细询问病史及家族史,绘制家系图。除Ⅲ2因年龄过小无法配合,其余成员均进行相关眼科检查(包括视力、眼压、裂隙灯检查、眼底检查、眼底照相、OCT、FERG)、听力检查(包括纯音测听、声导抗、声反射)和前庭功能检查(包括冷热水实验、眼动、眼震)。对所收集的临床资料进行分析,确定该家系临床分型,并筛选可疑致病基因突变。结果该家系中2例患者(Ⅱ1、Ⅱ4)诊断为Usher综合征Ⅰ型,家系内其他成员均未表现出患病特征。USH在该家系中的遗传方式为常染色体隐性遗传,由CDH23基因的c.6253+1G>A和c.287_288ins G两个位点复合杂合突变致病。结论通过对该家系的临床资料进行分析,可以确定该家系临床分型,并为筛选可疑致病基因突变提供依据。Objective To study the phenotypic characteristics and clinical classification of Usher syndrome（USH） in a Chinese family, and screen the disease-causing mutation（s）. Methods A family of 3 generations with 9 members（2 patients, 7 healthy members） was included in this study. A pedigree figure was drawn after the history was recorded in detail. Ophthalmologic examinations were performed in all the members except Ⅲ2, who was too young to be examined, including BCVA, IOP, biomicroscopy of the anterior eye segment, color photo of fundus, OCT and ERG. In addition, audiometric tests and vestibular function tests, including pure tone audiometry, tympanometry, acoustic reflex, cold and hot reaction, eye movement and nystagmus were performed. Then the clinical data were analyzed to determine the clinical classification of USH and to screen the suspected mutation（s）. Results Usher syndrome type Ⅰ was found in two patients（Ⅱ1,Ⅱ4） based on clinical features. The other members in USH family did not show the characteristics of this disease. USH was autosomal recessive inherited in this family and two novel compound heterozygous mutations（c.6253G〉A and c.287_288ins G） of CDH23 were identified. Conclusion In this study, we have confirmed the clinical classification by studying the phenotypic characteristics of USH family, and indentified pathogenic gene mutations of USH.

关 键 词：USHER综合征 表型 遗传病 基因突变 CDH23基因 

分 类 号：R774.13[医药卫生—眼科]