title: A novel mutation in RASA1 causes capillary malformation and limb enlargement.
abstract: 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.
authors.affiliation: Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel.
authors.forename: Dov
authors.initials: D
authors.lastname: Hershkovitz
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: 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*
chemical_list: D018389:Codon, Nonsense; C102193:RASA2 protein, human; D020703:ras GTPase-Activating Proteins