Gene/phenotype/disorder under study
OGA/MGEA5 (OMIM * 604039), O-GlcNAcase, OGA, MGEA5
Abstract
We have recently identified and reported the first few variants in OGA/MGEA5 gene that are linked to intellectual disability and neurodevelopmental defects (https://doi.org/10.1101/2023.11.23.23298195). The OGA/MGEA5 gene encodes for the O-GlcNAcase (OGA) a key regulator of O-GlcNAcylation. Affected individuals present with developmental delay, intellectual disability, movement disorder, dysmorphic features and epilepsy.
We are actively looking for individuals with de novo or inherited variants (likely pathogenic or VUS) in the OGA/MGEA5 gene associated with neurodevelopment and cognitive deficits to expand the case numbers and describe a novel neurodevelopmental syndrome associated with variants in OGA. Cellular and animal models will also be engineered to investigate variants related disease mechanisms.
We invite clinicians, geneticists and families to connect and collaborate with us.
Coordinating clinicians
Daan van Aalten – daan@mbg.au.dk
Florence Authier – florence@mbg.au.dk
Institution
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes