According to researchers, their new discovery involved mutations in a gene known as OGT. Mutations of this gene can modify the mechanism of a molecule known as GlcNAc, synonymous with intellectual disability. The end result is neurodevelopment defects.
“This is the first publication to classify mutations in OGT as a syndrome from the family of Congenital Disorders of Glycosylation and named it OGT-CDG. CDG are a well-known group of diseases that are caused by mutations in enzymes that attach sugar groups onto proteins,” wrote one of the study’s authors in a news release.
“Thanks to our work, clinicians will now be able to determine whether their patients belongs to this subset of CDG, which is often difficult to identify. Identifying potential reasons why these mutations lead to OGT-CDG could help generate a quicker way to diagnose these patients and will provide a basis for us to identify potential treatments.”
The study was published online on February 20th, 2020.