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Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National
Annabel Maruani1, Marine Durieux-Verde, Juliette Mazereeuw-Hautier
1Department of Dermatology, CHRU Tours, Hospital Trousseau, Avenue de la République, FR-37044, Tours Cedex 9, France. annabel-maruani@wanadoo.fr, annabel.maruani@univ-tours.fr.
Insights
Ras P21 protein activator 1 (RASA1) variants are uncommon in children with isolated leg capillary malformations (CM). This study found RASA1 variants in 6.1% of cases, with associated CMs being more often bilateral or multifocal.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is often linked to Ras P21 protein activator 1 (RASA1) gene mutations.
- RASA1 variants are a known cause of inherited vascular anomalies.
Purpose of the Study:
- To investigate the prevalence of germline RASA1 variants in French children with sporadic lower limb capillary malformations (CM).
- To explore potential genotype-phenotype correlations in this cohort.
Main Methods:
- Analysis of germline RASA1 variants in 113 children (ages 2-12) with sporadic leg CM.
- DNA extraction from leukocytes, gene amplification, and sequencing of all RASA1 exons.
Main Results:
- Heterozygous RASA1 variants were identified in 7 out of 113 children (6.1%).
- Four distinct variants were found, with two being novel.
- Capillary malformations were more frequently bilateral and multifocal in children with RASA1 variants.
Conclusions:
- RASA1 variants are infrequently detected in sporadic lower limb capillary malformations without concurrent CM-AVM syndrome.
- The heterogeneity of CMs observed suggests further research is needed to establish definitive genotype-phenotype relationships.
Abstract:
Patients with an inherited autosomal-dominant disorder, capillary malformation-arteriovenous malformation (CM-AVM), frequently have mutations in Ras P21 protein activator 1 (RASA1). The aims of this study were to determine the prevalence of germline RASA1 variants in a French multicentre national cohort of children, age range 2-12 years, with sporadic occurrence of capillary malformation (CM) of the legs, whatever the associated abnormalities, and to identify genotype-phenotype correlates. DNA was extracted from leukocytes in blood samples, purified and amplified, and all exons of the RASA1 gene were analysed. Among 113 children analysed, 7 had heterozygous variants (6.1%). Four different variants were identified; 2 were new. In children with RASA1 variants, CMs were more frequently bilateral and multifocal. In conclusion, RASA1 variants are rarely found in children with sporadic CM of lower limbs without CM-AVM syndrome. CMs in this study were heterogeneous, and no disease-causing relationship could be proven.
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