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.
KeywordsCapillary 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.
- 8.Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernandez L, Palomares M, Fernandez E, Tarduchy GR, Molano J, Gracia R, Pajares IL, Lapunzina P (2006) The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. Am J Med Genet A 140:2832–2833PubMedGoogle Scholar
- 14.Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q (2004) Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome. Nature 427:640–645PubMedCrossRefGoogle Scholar
- 18.Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E (1983) The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5–12PubMedCrossRefGoogle Scholar