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

Am J Med Genet. 1996 Oct 2;65(1):68-75. doi: 10.1002/(SICI)1096-8628(19961002)65:1<68::AID-AJMG11>3.0.CO;2-P.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / 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


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