A new article entitled RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation has recently been published in the Journal of Medical Genetics. It is co-authored by members of the VASCERN Vascular Anomalies Working Group (VASCA WG) including Prof. Miikka Vikkula, Prof. Laurence Boon, Prof. Alan Irvine and Dr. Veronika Dvorakova.
Capillary malformation-arteriovenous malformation (CM-AVM) is a rare disorder that is caused by loss-of-function mutations in the RAS1 or EPHB4 genes. However, in approximately 25% of patients a germline mutation in one of these genes is not found. In this paper, four distinct mosaic RAS1 mutations are identified in four patients with a classical phenotype of capillary malformation-arteriovenous malformation, showing that these types of mutations can also cause CM-AVM. Mosaic mutations refer to mutations that are present in only some cells in the body, meaning that some cells carry the mutation, but others do not. Thus, highly sensitive sequencing techniques should be considered in the diagnosis of this disorder, especially in cases where a family history is absent. These findings also have an impact on the genetic counseling of CM-AVM.
Download and read the full article here
J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106024. doi: 10.1136/jmedgenet-2019-106024. [Epub ahead of print]
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Revencu N1,2, Fastre E3, Ravoet M3, Helaers R4, Brouillard P4, Bisdorff-Bresson A5, Chung CWT6, Gerard M7, Dvorakova V8, Irvine AD8, Boon LM4,2, Vikkula M2,4.