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A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
  1. C J Gallione,
  2. K A Pasyk,
  3. L M Boon,
  4. F Lennon,
  5. D W Johnson,
  6. E A Helmbold,
  7. D S Markel,
  8. M Vikkula,
  9. J B Mulliken,
  10. M L Warman
  1. Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.

    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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