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Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation
Gema Gordo1, Lara Rodriguez-Laguna1, Noelia Agra1
1Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Clinical Genetics
|January 13, 2019
Summary
We identified RASA1 constitutional mosaicism in two patients with capillary malformation-arteriovenous malformation (CM-AVM). This finding impacts diagnosis and recurrence risk for this vascular disorder.
Area of Science:
- Genetics
- Vascular Biology
- Human Pathology
Background:
- Capillary malformation-arteriovenous malformation (CM-AVM) is linked to germline RASA1 and EPHB4 gene alterations.
- Previous research noted RASA1 intralesional second hits in CM-AVM cases.
Purpose of the Study:
- To investigate RASA1 constitutional mosaicism in patients diagnosed with CM-AVM.
- To analyze RASA1 variants in blood and affected tissue samples.
Main Methods:
- High-throughput sequencing of RASA1 gene in blood samples from two unrelated CM-AVM patients.
- Analysis of an affected tissue sample from one patient.
Main Results:
- Two unrelated CM-AVM patients presented with distinct nonsense RASA1 variants in mosaic form (7%-21.5%).
- Mosaic RASA1 variants were detected in both blood and affected tissue samples.
Conclusions:
- This study reports RASA1 constitutional mosaicism as a novel finding in CM-AVM.
- Constitutional mosaicism influences CM-AVM molecular diagnostics, recurrence risk assessment, and explains phenotypic variability.
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