RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

Nicole Revencu (1) , Elodie Fastre , Marie Ravoet , Raphaël Helaers (2) , Pascal Brouillard , Annouk Bisdorff-Bresson , Clara Chung , Marion Gérard (3) , Veronika Dvorakova , Alan Irvine , Laurence Boon , Miikka Vikkula (1)

1 Laboratory of Human Molecular Genetics
2 Research Unit in Molecular Biology (URBM-NARILIS)
3 UL - Université de Lorraine

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.

Keywords: RASA1; capillary malformation-arteriovenous malformation; mosaic mutation; second hit

Domains: Life Sciences [q-bio]; Genetics

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⟩