An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
Year: 2020
Type: article
Abstract: Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5-10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate with X-linked intellectual disability (XLID) in multiple families. OGT encodes O-GlcNAc transferase (OGT), an essential enzyme that catalyses O-linked glycosylation with β-N-acetylglucosamine (O-GlcNAc) on serine/threonine residues of thousands of nuclear and cytosolic proteins. In this review, we compile the work from the last few years that clearly delineates a new syndromic form of ID, which we propose to classify as a novel Congenital Disorder of Glycosylation (OGT-CDG). We discuss potential hypotheses for the underpinning molecular mechanism(s) that provide impetus for future research studies geared towards informed interventions.
Institutions: University of Dundee, University of Georgia, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, The University of Adelaide, University of Glasgow, Tartu University Hospital, University of Tartu, Queen Elizabeth University Hospital, Greenwood Genetic Center, Central South University, Xiangya Hospital Central South University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,000
OpenAlex ID: W3006785567