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

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.

• Authors: M K Wirtz, J R Samples, P L Kramer, K Rust, J Yount, T S Acott, R D Koler, J Cisler, A Jahed, R J Gorlin, M Godfrey
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 65 Issue 1 Pg. 68-75 (Oct 02 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8914744 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins

Topics

• Abnormalities, Multiple (genetics, physiopathology)
• Adolescent
• Adult
• Child
• Child, Preschool
• Chromosomes, Human, Pair 15
• Dwarfism (genetics)
• Eye Abnormalities (genetics)
• Female
• Fibrillin-1
• Fibrillins
• Genes, Dominant
• Genetic Linkage
• Humans
• Immunologic Techniques
• Infant
• Male
• Microfilament Proteins (genetics)
• Microsatellite Repeats
• Middle Aged
• Pedigree
• Syndrome