A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
AUTOR(ES)
Gallione, C J
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050316Documentos Relacionados
- Trisomy 5p: a second case occurring in a previously described kindred.
- Study of a form of pulverulent cataract in a large kindred.
- Diversity in expression of heterozygous familial hypercholesterolemia. Characterization of a unique kindred.
- A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36
- Breakpoint junctions of chromosome 9p deletions in two human glioma cell lines.