Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation
PE Lapinski, A Doosti, V Salato, P North… - European journal of …, 2018 - Elsevier
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant
vascular disorder that is associated with inherited inactivating mutations of the RASA1 gene
in the majority of cases. Characteristically, patients exhibit one or more focal cutaneous CM
that may occur alone or together with AVM, arteriovenous fistulas or lymphatic vessel
abnormalities. The focal nature and varying presentation of lesions has led to the hypothesis
that somatic “second hit” inactivating mutations of RASA1 are necessary for disease …
vascular disorder that is associated with inherited inactivating mutations of the RASA1 gene
in the majority of cases. Characteristically, patients exhibit one or more focal cutaneous CM
that may occur alone or together with AVM, arteriovenous fistulas or lymphatic vessel
abnormalities. The focal nature and varying presentation of lesions has led to the hypothesis
that somatic “second hit” inactivating mutations of RASA1 are necessary for disease …