Wirtz M K, Samples J R, Kramer P L, Rust K, Yount J, Acott T S, Koler R D, Cisler J, Jahed A, Gorlin R J, Godfrey M
Department of Ophthalmology, Casey Eye Institute, Oregon Health Sciences University, Portland 97201-4197, USA.
Am J Med Genet. 1996 Oct 2;65(1):68-75. doi: 10.1002/(SICI)1096-8628(19961002)65:1<68::AID-AJMG11>3.0.CO;2-P.
Weill-Marchesani syndrome comprises short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600). We present two families each with affected individuals in 3 generations demonstrating autosomal dominant inheritance of Weill-Marchesani syndrome. Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q21.1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals.
Weill-Marchesani综合征包括身材矮小、短指畸形、球形晶状体、青光眼和晶状体异位，被认为是一种常染色体隐性性状（麦库西克277600）。我们报告了两个家族，每个家族三代中都有受影响个体，显示出Weill-Marchesani综合征的常染色体显性遗传。对这两个家族进行连锁分析表明，Weill-Marchesani综合征的一个基因定位于15q21.1。这些家族中的晶状体脱位和结缔组织疾病提示，定位于15q21.1的原纤蛋白-1和微原纤维相关蛋白1是Weill-Marchesani综合征的候选基因。来自家族1的皮肤切片免疫组织化学染色显示，与对照个体相比，原纤蛋白染色明显减少。
