1. Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation.
- Author
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Zeng Q, Lu W, Ye Y, Li M, Ge H, Cao Q, He W, Zhang C, and Song W
- Subjects
- Humans, Male, Female, Adult, Pedigree, Asian People genetics, Port-Wine Stain genetics, Port-Wine Stain diagnosis, Lasers, Dye therapeutic use, China epidemiology, Child, Telangiectasis genetics, Telangiectasis congenital, Telangiectasis diagnosis, Adolescent, East Asian People, Receptor, EphB4 genetics, Arteriovenous Malformations genetics, Arteriovenous Malformations diagnosis, p120 GTPase Activating Protein genetics, Capillaries abnormalities, Capillaries pathology
- Abstract
Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic condition predominantly attributed to variations in the RASA1 or EPHB4 genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G>A) and two novel variations in the EPHB4 (c.53-2A>G and c.2222T>C), expanding the spectrum of variants associated with CM-AVM. Additionally, we found that the presence of EPHB4 variations in these two families, alongside a documented history of Bier spots, highlights the impact of genetic factors on disease phenotype. We also conducted 595 nm pulsed dye laser therapy on the proband 2, and observed that facial telangiectasia was significantly reduced after the laser treatment. We aim to enhance the understanding of the disease through case studies of three families., (© 2024 Japanese Dermatological Association.)
- Published
- 2025
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