Weill-Marchesani syndrome - possible linkage of the autosomal dominant form to 15q21.1

✍ Scribed by 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.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 624 KB
• Volume: 65
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961002)65:1<68::aid-ajmg11>3.0.co;2-p

✦ Synopsis

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 . I . The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q2 1.1, 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.