A novel mutation in RASA1 causes capillary malformation and limb enlargement

作者：Hershkovitz Dov; Bergman Reuven; Sprecher Eli^*

来源：Archives of Dermatological Research, 2008, 300(7): 385-388.

DOI：10.1007/s00403-008-0842-5

• capillary malformation
• RASA1
• Parkes Weber syndrome
• Klippel-Trenaunay syndrome

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.

• 出版日期2008-8