Gallione C J, Pasyk K A, Boon L M, Lennon F, Johnson D W, Helmbold E A, Markel D S, Vikkula M, Mulliken J B, Warman M L
Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
J Med Genet. 1995 Mar;32(3):197-9. doi: 10.1136/jmg.32.3.197.
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.
静脉畸形是一种常见的血管异常形式，可引起疼痛和毁容，如果累及重要器官，还可能危及生命。它们以散发性或家族性形式出现，通常存在多个病变。我们已经确定了一个显示静脉畸形常染色体显性遗传的大家族。利用这个家族，我们证实了家族性静脉畸形与9号染色体短臂的连锁关系。我们认为蓝色橡皮疱痣综合征可被视为这种家族性静脉畸形的一种特殊表现形式。该基因的候选区域包括干扰素基因簇和MTS1（p16）肿瘤抑制基因。
