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

Carol J. Gallione, Krystyna A. Pasyk, Laurence M. Boon, Felicia Lennon, David W. Johnson, Elizabeth A. Helmbold, Dorene S. Markel, Miikka Vikkula, John B. Mulliken, Matthew L. Warman, Margaret A. Pericak-Vance, Douglas A. Marchuk

Research output: Contribution to journalArticlepeer-review

124 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)197-199
Number of pages3
JournalJournal of medical genetics
Volume32
Issue number3
DOIs
StatePublished - Mar 1995
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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