Journal
CLINICAL GENETICS
Volume 95, Issue 4, Pages 516-519Publisher
WILEY
DOI: 10.1111/cge.13499
Keywords
capillary malformation-arteriovenous malformation; constitutional mosaicism; RASA1
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Funding
- Instituto de Salud Carlos III, Fondo Europeo de Desarrollo Regional (FEDER) [PI17/00519]
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Capillary malformation-arteriovenous malformation (CM-AVM) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Here we report RASA1 constitutional mosaicism, defined here as the presence of a mosaic variant in all cell types of an individual, in two patients with CM-AVM. High-throughput sequencing was used to search for RASA1 pathogenic variants in blood samples from two unrelated patients with CM-AVM. An affected tissue sample from one of the patients was also analyzed. Both patients showed different nonsense RASA1 variants in mosaic, ranging from 7% to 21.5%, in blood samples and in the corresponding affected tissue sample from one of the patients. In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM. Constitutional mosaicism has implications for accurate molecular diagnosis and recurrence risk and helps to explain the great phenotypic variability in CM-AVM.
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