RHOBTB2-related disorders are caused by a variety of mutations (changes in DNA) in the RHOBTB2 gene. All mutations cause single amino acid change (e.g. Arginine to Glutamine), and the same mutation has been found in several (unrelated) patients. The severity of the condition of the patients with the same mutation can differ.
Suspected pathophysiologic mechanism
The RHOBTB2 gene produces RHOBTB2 protein. RHOBTB2 protein plays a role in destroying proteins with itself in cells. Mutations in RHOBTB2 likely cause increased RHOBTB2 protein levels, possibly leading to excessive destruction of certain proteins. Further research is needed for better understanding of these mechanisms.
RHOBTB2 mutations are discovered through DNA-testing. This is usually carried out in children with seizures and/or developmental abnormalities. Usually the diagnosis is based on the result of DNA-testing carried out of multiple genes in parallel, for example through a next-generation sequencing (NGS) panel or whole-exome sequencing.