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Published on: June 15, 2020
Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation
Qin Zeng1,2, Wenmin Lu1, Ying Ye1
1Department of Dermatology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.
Insights
Genetic variations in RASA1 and EPHB4 genes are linked to capillary malformation-arteriovenous malformation (CM-AVM). This study identifies new variants and highlights genetic factors influencing CM-AVM phenotypes, including Bier spots.
Area of Science:
- Genetics
- Dermatology
- Vascular Biology
Background:
- Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic disorder.
- It is primarily associated with mutations in the RASA1 or EPHB4 genes.
Purpose of the Study:
- To identify and characterize novel genetic variations in families with CM-AVM.
- To explore the relationship between genetic factors and CM-AVM phenotype, including Bier spots.
- To evaluate the efficacy of pulsed dye laser therapy for facial telangiectasia in CM-AVM.
Main Methods:
- Genetic sequencing to identify variations in RASA1 and EPHB4 genes.
- Clinical evaluation of affected individuals and family history assessment.
- Case study analysis of three families with CM-AVM.
- Treatment of facial telangiectasia with 595 nm pulsed dye laser therapy.
Main Results:
- Three genetic variations were identified: one in RASA1 (c.2603+1G>A) and two novel variations in EPHB4 (c.53-2A>G and c.2222T>C).
- EPHB4 variations were found in families with a history of Bier spots, suggesting a genotype-phenotype correlation.
- Pulsed dye laser therapy resulted in significant reduction of facial telangiectasia in a proband.
Conclusions:
- The study expands the known spectrum of genetic variants associated with CM-AVM.
- Genetic factors, particularly EPHB4 variations, play a significant role in CM-AVM phenotype expression.
- Pulsed dye laser therapy is an effective treatment option for facial telangiectasia in CM-AVM patients.
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.
