Perveen R, Hart-Holden N, Dixon M J, Wiszniewski W, Fryer A E, Brunner H G, Pinkners A J, van Beersum S E, Black G C
University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Hathersage Road, Manchester, M13 OJH, United Kingdom.
Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766.
Wagner syndrome (WGN1; MIM 143200), an autosomal dominant vitreoretinopathy characterized by chorioretinal atrophy, cataract, and retinal detachment, is linked to 5q14.3. Other vitreoretinopathies without systemic stigmata, including erosive vitreoretinopathy, are also linked to this region and are likely to be allelic. Within the critical region lie genes encoding two extracellular macromolecules, link protein (CRTL1) and versican (CSPG2), which are important in binding hyaluronan, a significant component of the mammalian vitreous gel, and which therefore represent excellent candidates for Wagner syndrome. Genetic mapping presented here in two further families reduces the critical region to approximately 2 cM. Subsequent refinement of the physical map allows ordering of known polymorphic microsatellites and excludes CRTL1 as a likely candidate for the disorder. CSPG2 is shown to lie within the critical region; however, analysis of the complete coding region of the mature peptide reveals no clear evidence that it is the gene underlying WGN1.
瓦格纳综合征（WGN1；MIM 143200）是一种常染色体显性遗传性玻璃体视网膜病变，其特征为脉络膜视网膜萎缩、白内障和视网膜脱离，与5q14.3相关。其他无全身特征的玻璃体视网膜病变，包括侵蚀性玻璃体视网膜病变，也与该区域相关，并且可能是等位基因。在关键区域内存在编码两种细胞外大分子的基因，即连接蛋白（CRTL1）和多功能蛋白聚糖（CSPG2），它们在结合透明质酸（哺乳动物玻璃体凝胶的重要成分）方面起重要作用，因此是瓦格纳综合征的极佳候选基因。本文在另外两个家族中进行的基因定位将关键区域缩小至约2厘摩。随后对物理图谱的细化使得已知的多态性微卫星得以排序，并排除了CRTL1作为该疾病的可能候选基因。结果表明CSPG2位于关键区域内；然而，对成熟肽完整编码区的分析未发现明确证据表明它是WGN1的致病基因。
