A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ~2 Mb interstiti...

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Autores principales: Morisada, Naoya, Ioroi, Tomoaki, Taniguchi-Ikeda, Mariko, Juan Ye, Ming, Okamoto, Nobuhiko, Yamamoto, Toshiyuki, Iijima, Kazumoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023786/
https://www.ncbi.nlm.nih.gov/pubmed/27656287
http://dx.doi.org/10.1038/hgv.2016.29
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author Morisada, Naoya
Ioroi, Tomoaki
Taniguchi-Ikeda, Mariko
Juan Ye, Ming
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
Iijima, Kazumoto
author_facet Morisada, Naoya
Ioroi, Tomoaki
Taniguchi-Ikeda, Mariko
Juan Ye, Ming
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
Iijima, Kazumoto
author_sort Morisada, Naoya
collection PubMed
description N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ~2 Mb interstitial deletion in 12p13 involving the entire GRIN2B gene, who presented with intellectual disability, motor developmental delay and marked macrocephaly.
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spelling pubmed-50237862016-09-21 A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly Morisada, Naoya Ioroi, Tomoaki Taniguchi-Ikeda, Mariko Juan Ye, Ming Okamoto, Nobuhiko Yamamoto, Toshiyuki Iijima, Kazumoto Hum Genome Var Data Report N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ~2 Mb interstitial deletion in 12p13 involving the entire GRIN2B gene, who presented with intellectual disability, motor developmental delay and marked macrocephaly. Nature Publishing Group 2016-09-15 /pmc/articles/PMC5023786/ /pubmed/27656287 http://dx.doi.org/10.1038/hgv.2016.29 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Morisada, Naoya
Ioroi, Tomoaki
Taniguchi-Ikeda, Mariko
Juan Ye, Ming
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
Iijima, Kazumoto
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title_full A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title_fullStr A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title_full_unstemmed A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title_short A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
title_sort 12p13 grin2b deletion is associated with developmental delay and macrocephaly
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023786/
https://www.ncbi.nlm.nih.gov/pubmed/27656287
http://dx.doi.org/10.1038/hgv.2016.29
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