-
A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
Gallione CJ,
Pasyk KA,
Boon LM,
Lennon F,
Johnson DW,
Helmbold EA,
Markel DS,
Vikkula M,
Mulliken JB,
Warman ML, et al.
Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
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.
PMID: 7783168 [PubMed - indexed for MEDLINE]
PMCID: PMC1050316
-
Cited by 5 PubMed Central articles
-
A case of blue rubber bleb nevus syndrome.
Shin SH, Chae HS, Ji JS, Kim HK, Cho YS, Chang ED, Choi KY.
Korean J Intern Med. 2008 Dec; 23(4):208-12.
[Korean J Intern Med. 2008]
-
Synchronous multiple small bowel intussusceptions in an adult with blue rubber bleb naevus syndrome: Report of a case and review of literature.
Lee C, Debnath D, Whitburn T, Farrugia M, Gonzalez F.
World J Emerg Surg. 2008 Jan 18; 3:3. Epub 2008 Jan 18.
[World J Emerg Surg. 2008]
-
Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding.
Fishman SJ, Smithers CJ, Folkman J, Lund DP, Burrows PE, Mulliken JB, Fox VL.
Ann Surg. 2005 Mar; 241(3):523-8.
[Ann Surg. 2005]
- » See all...