WEILL-MARCHESANI SYNDROME - POSSIBLE LINKAGE OF THE AUTOSOMAL-DOMINANT FORM TO 15Q21.1

Weill-Marchesani syndrome comprises short stature, brachydactyly, micr ospherophakia, glaucoma, and ectopia lentis is regarded as an autosoma l recessive trait (McKusick 277600). We present two families each with affected individuals in 3 generations demonstrating autosomal dominan t 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 fami lies suggests that fibrillin-1 and microfibril-associated protein 1, w hich both map to 15q21.1, are candidate genes for Weill-Marchesani syn drome. Immunohistochemistry staining of skin sections from family 1 sh owed an apparent decrease in fibrillin staining compared to control in dividuals.