RABGAP1-related neurodevelopmental disorder is caused by changes in both copies of the RABGAP1gene.
The RABGAP1gene provides instructions for making a protein that helps control processes inside cells, including the movement of materials within cells and signaling pathways that are important for cell growth and function.
The disease-causing changes identified so far are predicted to prevent the RABGAP1 protein from working properly. These are called loss-of-function variants.
The condition is inherited in an autosomal recessive manner. This means that an affected child has a disease-causing change in both copies of the RABGAP1gene. The parents are usually healthy carriers, with one changed copy and one working copy of the gene.
When both parents are carriers, each pregnancy has a 25% chance of being affected, a 50% chance of being an unaffected carrier, and a 25% chance of being unaffected and not carrying the familial change.
Genetic testing can identify changes in the RABGAP1gene. Genetic counselling can help families understand the genetic findings and discuss testing and reproductive options.
RABGAP1