Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
RS de Wijn, CEU Oduber, CC Breugem… - European journal of …, 2012 - Elsevier
Hereditary capillary malformations are known to be caused by mutations in the RASA1
gene. The associated phenotype is still subject of debate. The purpose of this study was to
conduct a RASA1 mutation analysis in the family that led to the initial discovery of the 5q
locus, and to delineate the associated phenotype. A novel truncating mutation was identified
in all clinically affected individuals and in none of the unaffected members. The associated
phenotype was widely variable; all individuals had multifocal CM with at least one area of …
gene. The associated phenotype is still subject of debate. The purpose of this study was to
conduct a RASA1 mutation analysis in the family that led to the initial discovery of the 5q
locus, and to delineate the associated phenotype. A novel truncating mutation was identified
in all clinically affected individuals and in none of the unaffected members. The associated
phenotype was widely variable; all individuals had multifocal CM with at least one area of …