A novel mutation in RASA1 causes capillary malformation and limb enlargement.
Capillary malformations are common vascular malformations. Several syndromes have been described in which CMs are present in association with limb enlargement, among these are Klippel-Trenaunay syndrome (KTS) and Parkes Weber syndrome (PWS). Mutations in the RASA1 gene have been shown to underlie the capillary malformation-arterio-venous malformation (CM-AVM) syndrome, sometimes presenting with PWS. We identified a family comprising a patient with CMs and limb enlargement and a number of family members with CM/CM-AVM. A novel mutation in RASA1 was found to underlie the disease in this case. The present results illustrate the extensive degree of phenotypic heterogeneity associated with deleterious mutations in RASA1.
Hershkovitz
Dov
D
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel.
Bergman
Reuven
R
Sprecher
Eli
E
D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D018324:Hemangioma, Capillary / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007585:Jews; D007715:Klippel-Trenaunay-Weber Syndrome / Q000235:genetics / Q000473:pathology; D007868:Leg Dermatoses / Q000473:pathology; D008297:Male; D009389:Neovascularization, Pathologic; D010375:Pedigree; D012867:Skin / Q000098:blood supply / Q000473:pathology; D054079:Vascular Malformations / Q000235:genetics*; D020703:ras GTPase-Activating Proteins / Q000235:genetics*
D018389:Codon, Nonsense; C102193:RASA2 protein, human; D020703:ras GTPase-Activating Proteins