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. 1995 Mar;32(3):197–199. doi: 10.1136/jmg.32.3.197

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

C J Gallione 1, K A Pasyk 1, L M Boon 1, F Lennon 1, D W Johnson 1, E A Helmbold 1, D S Markel 1, M Vikkula 1, J B Mulliken 1, M L Warman 1, et al.
PMCID: PMC1050316  PMID: 7783168

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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