Capillary malformations in a child caused by a novel HRAS mutation
Dirk van Gysel1,2, Hannelore de Maeseneer1, Eric Legius3,4
1Department of Pediatrics, O.L. Vrouw Hospital Aalst, Aalst, Belgium.
Insights
A novel HRAS gene mutation was found in a child with port-wine birthmarks and leg overgrowth. This discovery expands the known genetic causes of capillary malformations.
Area of Science:
- Genetics
- Dermatology
- Vascular Biology
Background:
- Capillary malformations, such as port-wine birthmarks (PWB), are common vascular anomalies.
- These malformations can be associated with other clinical features, including overgrowth and venous abnormalities.
- The genetic underpinnings of many capillary malformations remain incompletely understood.
Abstract:
A 6-year-old boy with multiple capillary malformations of the port-wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in-frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic HRAS pathogenic variants, especially in-frame duplications/insertions, must be added to the list of the underlying causes in capillary malformations.
Related Concept Videos
02:38The Ras Gene
Ras is a...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...