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An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
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 mult...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253464/ https://www.ncbi.nlm.nih.gov/pubmed/32080367 http://dx.doi.org/10.1038/s41431-020-0589-9 |
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author | Pravata, Veronica M. Omelková, Michaela Stavridis, Marios P. Desbiens, Chelsea M. Stephen, Hannah M. Lefeber, Dirk J. Gecz, Jozef Gundogdu, Mehmet Õunap, Katrin Joss, Shelagh Schwartz, Charles E. Wells, Lance van Aalten, Daan M. F. |
author_facet | Pravata, Veronica M. Omelková, Michaela Stavridis, Marios P. Desbiens, Chelsea M. Stephen, Hannah M. Lefeber, Dirk J. Gecz, Jozef Gundogdu, Mehmet Õunap, Katrin Joss, Shelagh Schwartz, Charles E. Wells, Lance van Aalten, Daan M. F. |
author_sort | Pravata, Veronica M. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7253464 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-72534642020-06-05 An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase Pravata, Veronica M. Omelková, Michaela Stavridis, Marios P. Desbiens, Chelsea M. Stephen, Hannah M. Lefeber, Dirk J. Gecz, Jozef Gundogdu, Mehmet Õunap, Katrin Joss, Shelagh Schwartz, Charles E. Wells, Lance van Aalten, Daan M. F. Eur J Hum Genet Review Article 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. Springer International Publishing 2020-02-20 2020-06 /pmc/articles/PMC7253464/ /pubmed/32080367 http://dx.doi.org/10.1038/s41431-020-0589-9 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Review Article Pravata, Veronica M. Omelková, Michaela Stavridis, Marios P. Desbiens, Chelsea M. Stephen, Hannah M. Lefeber, Dirk J. Gecz, Jozef Gundogdu, Mehmet Õunap, Katrin Joss, Shelagh Schwartz, Charles E. Wells, Lance van Aalten, Daan M. F. An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title_full | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title_fullStr | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title_full_unstemmed | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title_short | An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
title_sort | intellectual disability syndrome with single-nucleotide variants in o-glcnac transferase |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253464/ https://www.ncbi.nlm.nih.gov/pubmed/32080367 http://dx.doi.org/10.1038/s41431-020-0589-9 |
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