Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
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
_version_ 1783539338681778176
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
work_keys_str_mv AT pravataveronicam anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT omelkovamichaela anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT stavridismariosp anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT desbienschelseam anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT stephenhannahm anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT lefeberdirkj anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT geczjozef anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT gundogdumehmet anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT ounapkatrin anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT jossshelagh anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT schwartzcharlese anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT wellslance anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT vanaaltendaanmf anintellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT pravataveronicam intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT omelkovamichaela intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT stavridismariosp intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT desbienschelseam intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT stephenhannahm intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT lefeberdirkj intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT geczjozef intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT gundogdumehmet intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT ounapkatrin intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT jossshelagh intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT schwartzcharlese intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT wellslance intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase
AT vanaaltendaanmf intellectualdisabilitysyndromewithsinglenucleotidevariantsinoglcnactransferase