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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

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  1. Boon L. M., Mulliken J. B., Vikkula M., Watkins H., Seidman J., Olsen B. R., Warman M. L. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. 1994 Sep;3(9):1583–1587. doi: 10.1093/hmg/3.9.1583. [DOI] [PubMed] [Google Scholar]
  2. Folkman J., Shing Y. Angiogenesis. J Biol Chem. 1992 Jun 5;267(16):10931–10934. [PubMed] [Google Scholar]
  3. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  4. Kamb A., Gruis N. A., Weaver-Feldhaus J., Liu Q., Harshman K., Tavtigian S. V., Stockert E., Day R. S., 3rd, Johnson B. E., Skolnick M. H. A cell cycle regulator potentially involved in genesis of many tumor types. Science. 1994 Apr 15;264(5157):436–440. doi: 10.1126/science.8153634. [DOI] [PubMed] [Google Scholar]
  5. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. McDonald M. T., Papenberg K. A., Ghosh S., Glatfelter A. A., Biesecker B. B., Helmbold E. A., Markel D. S., Zolotor A., McKinnon W. C., Vanderstoep J. L. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994 Feb;6(2):197–204. doi: 10.1038/ng0294-197. [DOI] [PubMed] [Google Scholar]
  7. Nobori T., Miura K., Wu D. J., Lois A., Takabayashi K., Carson D. A. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature. 1994 Apr 21;368(6473):753–756. doi: 10.1038/368753a0. [DOI] [PubMed] [Google Scholar]
  8. Pasyk K. A., Argenta L. C., Erickson R. P. Familial vascular malformations. Report of 25 members of one family. Clin Genet. 1984 Sep;26(3):221–227. [PubMed] [Google Scholar]

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