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

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

Research output: Contribution to journalArticle

37 Scopus citations

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 languageEnglish (US)
Pages (from-to)68-75
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume65
Issue number1
DOIs
StatePublished - Oct 2 1996

Keywords

  • Weill-Marchesani
  • chromosome 15
  • fibrillin-1
  • linkage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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