A gene for familial venous malformations maps to chromosome 9p in a second large kindred

J Med Genet. 1995 Mar;32(3):197-9. doi: 10.1136/jmg.32.3.197.

Abstract

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial form of venous malformations to chromosome 9p. We suggest that blue rubber bleb naevus syndrome can be considered a particular manifestation of this form of familial venous malformations. The candidate region for this gene encompasses the interferon gene cluster and the MTS1 (p16) tumour suppressor gene.

Publication types

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

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, Pair 9 / genetics*
  • Family Health
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Veins / abnormalities*