56例Ⅰ型Usher综合征先证者中CDH23基因的突变谱
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
作者信息
Oshima A, Jaijo T, Aller E, Millan J M, Carney C, Usami S, Moller C, Kimberling W J
机构信息
Center for the Study and Treatment of Usher Syndrome, Boys Town National research hospital, Omaha, Nebraska 68131, USA.
出版信息
Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.
Abstract
Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already screened for mutations in MYO7A. A total of 18 of 56 subjects (32.1%) were observed to have one or two CDH23 variants that are presumed to be pathologic. Twenty one different pathologic genome variants were observed of which 15 were novel. Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations.
摘要
编码钙黏蛋白23（CDH23）的人类基因突变会导致1D型Usher综合征（USH1D）和非综合征性听力损失。I型Usher综合征患者患有严重的先天性耳聋、前庭反射消失，通常在青春期早期开始出现视网膜色素变性（RP）的症状。在本研究中，我们对56名已筛查过肌球蛋白7A（MYO7A）突变的1型Usher综合征先证者的CDH23基因的所有69个外显子进行了突变分析。56名受试者中有18名（32.1%）被观察到有一个或两个推测为病理性的CDH23变异。观察到21种不同的病理性基因组变异，其中15种是新发现的。在总共112个等位基因中，31个（27.7%）被认为是病理性的。根据我们的结果，估计约20%的I型Usher综合征患者有CDH23突变。
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