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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Gallione, CJ; Pasyk, KA; Boon, LM; Lennon, F; Johnson, DW; Helmbold, EA; Markel, DS; Vikkula, M; Mulliken, JB; Warman, ML

Published Date

  • March 1995

Published In

Volume / Issue

  • 32 / 3

Start / End Page

  • 197 - 199

PubMed ID

  • 7783168

Pubmed Central ID

  • PMC1050316

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.32.3.197


  • eng

Conference Location

  • England