A locus for hereditary capillary malformations mapped on chromosome 5q

Hum Genet. 2002 Apr;110(4):343-7. doi: 10.1007/s00439-002-0700-z. Epub 2002 Mar 2.


Capillary malformations (port-wine stains) are the most common vascular malformations occurring in 0.3% of live births. Most capillary malformations occur sporadically and present as a solitary lesion. Capillary malformations can also occur as a component of well-described syndromes. Familial occurrence of multiple capillary malformations has been described in the literature, suggesting autosomal dominant inheritance with variable expression in this subgroup. A hereditary basis underlying the development of solitary capillary malformations has not been found, but may well be possible. We have mapped a locus for an autosomal dominant disorder in a three-generation family that manifested itself with multiple cutaneous capillary malformations to chromosome 5q13-22. This locus spans 48 cM between the markers D5S647 and D5S659 and harbours several candidate genes. By defining the gene(s) responsible for capillary malformations, we will gain more insight in the pathogenesis of this disorder. It is likely that genes implicated in these familial cases may be involved in the more sporadic cases.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • Female
  • Humans
  • Male
  • Pedigree
  • Port-Wine Stain / genetics*

Associated data

  • OMIM/138000
  • OMIM/14900
  • OMIM/163000
  • OMIM/185300
  • OMIM/600195
  • OMIM/603284
  • OMIM/6032851
  • OMIM/604214