Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

Molecular Syndromology

L. Russell¹  M. Vikkula¹  F. Forzano¹  J. Lähde¹  N. Revencu¹  A. Dompmartin¹  K.O.J. Simola¹  P. Rieu¹  A.M.A. Lachmeijer¹  J.M. van Hagen¹  S. Halbach¹  J. Dubois¹  A. Kuechler¹  W.L. Busch¹  J.B. Mulliken¹  L.M. Boon¹ 

[1] aLaboratory of Human Molecular Genetics, de Duve Institute, Brussels, Belgium

关键词: Klippel-Trenaunay syndrome;    Capillary malformation ;    Capillary malformation-arteriovenous malformation ;    Overgrowth;    Parkes Weber syndrome;    RASA1;    p120RASGAP
;   

DOI  :  10.1159/000349919

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders.

【 授权许可】

Unknown