Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I
Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I
复制标题
DOI：
10.1038/sj.eye.6702001
复制
发表时间：
2006-06
期刊：
影响因子：
3.9
通讯作者：
S. Yoshida;Y. Yamaji;R. Kuwahara;A. Yoshida;T. Hisatomi;A. Ueno;T. Ishibashi
中科院分区：
文献类型：
--
作者：
S. Yoshida;Y. Yamaji;R. Kuwahara;A. Yoshida;T. Hisatomi;A. Ueno;T. Ishibashi
Stickler综合征（STL）是一种常染色体显性遗传疾病，其特征是玻璃体和视网膜变性，并且经常与近视相关。1它还伴有非眼部体征，例如口面异常、耳聋和关节炎。在眼科学中，STL没有被广泛接受的临床诊断标准。2基于基因座异质性，提出了STL的亚分类; COL 2A 1突变与先天性“膜性”玻璃体异常的STL I型相关; COL 11 A1突变与显示“珠状”表型的STL II型相关; COL 11 A2突变与非眼部STL III型相关（OMIM 120140、120280和120290）。3已确定STL I型患者的一个亚组，其特征在于主要为眼部疾病而无全身受累。4，5有人认为，分子遗传学和对表型的仔细检查将为临床医生提供准确诊断所需的证据。2然而，主要在西方世界报告了几例严重程度和表现以及遗传背景不同的STL病例。
Stickler Syndrome (STL) is an autosomal dominant disorder characterized by degeneration of the vitreous and retina, and is frequently associated with myopia. 1 It is also accompanied by nonocular signs, such as orofacial anomalies, deafness, and arthritis. There are no widely accepted clinical diagnostic criteria for STL in ophthalmology. 2 Based on locus heterogeneity, a subclassification of STL has been proposed; COL2A1 mutation associated STL type I with a congenital ‘membranous’ vitreous anomaly; COL11A1 mutations associated with STL type II showing a ‘beaded’phenotype; and COL11A2 mutations associated with non-ocular STL type III (OMIM 120140, 120280, and 120290). 3 A subgroup of STL type I patients has been identified who are characterized by predominantly ocular disorders without systemic involvement. 4, 5 It has been suggested that molecular genetics and scrutiny of the phenotype will provide evidence that clinicians require for accurate diagnosis. 2 However, several cases of STL with different degrees of severity and manifestations, and genetic background, have been reported mainly in the Western world.