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Identification of Novel Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.鉴定导致中度至重度进行性非综合征性听力损失的新型变异。
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本文引用的文献

1
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.对一组患有Usher综合征患者的USH1基因突变频率进行的调查显示了钙黏蛋白23和原钙黏蛋白15基因的重要性，并确定了超过90%的检测率。
J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5.
2
Strain background effects and genetic modifiers of hearing in mice.小鼠听力的品系背景效应和遗传修饰因子
Brain Res. 2006 May 26;1091(1):79-88. doi: 10.1016/j.brainres.2006.02.021. Epub 2006 Mar 31.
3
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.西班牙I型Usher综合征患者中MYO7A基因的突变谱
Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404.
4
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.对一组遗传性耳聋-视网膜色素变性综合征患者中Ⅰ型遗传性耳聋-视网膜色素变性综合征基因突变的特征分析
Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20.
5
Genetic insights into the morphogenesis of inner ear hair cells.内耳毛细胞形态发生的遗传学见解。
Nat Rev Genet. 2004 Jul;5(7):489-98. doi: 10.1038/nrg1377.
6
Epidemiology of Usher syndrome in Valencia and Spain.巴伦西亚及西班牙的乌舍尔综合征流行病学
Community Genet. 1998;1(4):223-8. doi: 10.1159/000016167.
7
Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells.钙黏蛋白23的突变影响斑马鱼感觉毛细胞中的纤毛连接。
Nature. 2004 Apr 29;428(6986):955-9. doi: 10.1038/nature02484. Epub 2004 Mar 31.
8
Cadherin 23 is a component of the tip link in hair-cell stereocilia.钙黏蛋白23是毛细胞静纤毛顶端连接的一个组成部分。
Nature. 2004 Apr 29;428(6986):950-5. doi: 10.1038/nature02483. Epub 2004 Mar 31.
9
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.钙黏蛋白23与感音神经性听力损失的多基因遗传及基因修饰的关联
Nat Genet. 2003 Sep;35(1):21-3. doi: 10.1038/ng1226. Epub 2003 Aug 10.
10
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.I型Usher综合征G型（USH1G）是由编码SANS的基因突变引起的，SANS是一种与USH1C蛋白（harmonin）相关的蛋白质。
Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051.

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.

DOI:10.1002/humu.20761
PMID:18429043
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2399895/
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。