title: A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
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.
authors.affiliation: Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: C J
authors.initials: CJ
authors.lastname: Gallione
authors.forename: K A
authors.initials: KA
authors.lastname: Pasyk
authors.forename: L M
authors.initials: LM
authors.lastname: Boon
authors.forename: F
authors.initials: F
authors.lastname: Lennon
authors.forename: D W
authors.initials: DW
authors.lastname: Johnson
authors.forename: E A
authors.initials: EA
authors.lastname: Helmbold
authors.forename: D S
authors.initials: DS
authors.lastname: Markel
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
authors.forename: J B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014680:Veins / Q000002:abnormalities*