A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
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.
Gallione
C J
CJ
Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Pasyk
K A
KA
Boon
L M
LM
Lennon
F
F
Johnson
D W
DW
Helmbold
E A
EA
Markel
D S
DS
Vikkula
M
M
Mulliken
J B
JB
Warman
M L
ML
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*