ArticleMolecular syndromology2013
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 48 citations in OpenAlex.
- Molecular landscape and classification of vascular anomalies.Hematology. American Society of Hematology. Education Program · 2024Review
- Klippel-Trenaunay syndrome and chiari I malformation. A case report and systematic review of the literature.Brain & spine · 2024Article
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- Role of RASA1 in cancer: A review and update (Review).Oncology reports · 2020Review
- A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report.Acta medica Lituanic · 2020Article
- Female Pelvic Vascular Malformations.Seminars in interventional radiology · 2018Review
- A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.Hereditas · 2018Article
- Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.American journal of medical genetics. Part A · 2017Article
- Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.Radiology research and practice · 2014Review
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Authors and funding
16 authors at 13 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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