Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder

In this study, we identified rare nonsense, in frame deletion, and missense biallelic variants inAGMO in two unrelated individuals with neurodevelopmental disabilities. We assessed the activity of seven disease associatedAGMO variants including the four variants identified in our two affected individuals expressed in human embryonic kidney (HEK293T) cells. We demonstrated significantly diminished enzyme activity for all disease-associated variants, supporting the mechanism as decreased AGMO activity. Future mechanistic studies are necessary to understand how decreased AGMO activity leads to the neurologic manifestations.
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research