Archives of Dermatological Research

, Volume 300, Issue 7, pp 385–388 | Cite as

A novel mutation in RASA1 causes capillary malformation and limb enlargement

  • Dov Hershkovitz
  • Reuven Bergman
  • Eli Sprecher
Short Communication


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.


Capillary malformation RASA1 Parkes Weber syndrome Klippel–Trenaunay syndrome 



We are grateful to the family members for their participation in our study. We wish to thank Rita Fuhrer-Mor and Vered Friedman for services in nucleic acid analysis.


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Dov Hershkovitz
    • 1
    • 2
    • 3
  • Reuven Bergman
    • 1
    • 2
  • Eli Sprecher
    • 1
    • 2
    • 3
  1. 1.Department of Dermatology and Laboratory of Molecular DermatologyRambam Health Care CampusHaifaIsrael
  2. 2.Faculty of MedicineTechnion, Israel Institute of TechnologyHaifaIsrael
  3. 3.Center for Translational Genetics, Rappaport Institute for Research in the Medical SciencesTechnion, Israel Institute of TechnologyHaifaIsrael

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