Abstract
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.
Original language | English (US) |
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Pages (from-to) | 68-75 |
Number of pages | 8 |
Journal | American journal of medical genetics |
Volume | 65 |
Issue number | 1 |
DOIs | |
State | Published - Oct 2 1996 |
Keywords
- Weill-Marchesani
- chromosome 15
- fibrillin-1
- linkage
ASJC Scopus subject areas
- Genetics(clinical)