RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation - Normandie Université Access content directly
Journal Articles Journal of Medical Genetics Year : 2019

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

Elodie Fastre
  • Function : Author
Marie Ravoet
  • Function : Author
Pascal Brouillard
  • Function : Author
Annouk Bisdorff-Bresson
  • Function : Author
Clara Chung
  • Function : Author
Veronika Dvorakova
  • Function : Author
Alan Irvine
  • Function : Author
Laurence Boon
  • Function : Author
Miikka Vikkula
  • Function : Author
  • PersonId : 883016

Abstract

Capillary malformation-arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and increased risk of fast-flow vascular malformations, caused by loss-of-function mutations in the RASA1 or EPHB4 genes. Around 25% of the patients do not seem to carry a germline mutation in either one of these two genes. Even if other genes could be involved, some individuals may have mutations in the known genes that escaped detection by less sensitive techniques. We tested the hypothesis that mosaic mutations could explain some of previously negative cases.
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Dates and versions

hal-02268420 , version 1 (20-08-2019)

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Nicole Revencu, Elodie Fastre, Marie Ravoet, Raphaël Helaers, Pascal Brouillard, et al.. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Journal of Medical Genetics, 2019, pp.jmedgenet-2019-106024. ⟨10.1136/jmedgenet-2019-106024⟩. ⟨hal-02268420⟩
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