Dataset Information

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

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 ?-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.

SUBMITTER: Pravata VM

PROVIDER: S-EPMC7253464 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

Pravata Veronica M VM Omelková Michaela M Stavridis Marios P MP Desbiens Chelsea M CM Stephen Hannah M HM Lefeber Dirk J DJ Gecz Jozef J Gundogdu Mehmet M Õunap Katrin K Joss Shelagh S Schwartz Charles E CE Wells Lance L van Aalten Daan M F DMF

European journal of human genetics : EJHG 20200220 6

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 nucl ...[more]

PMID: 32080367

Dataset Information

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

Publications

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

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