A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to syna...

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Autores principales: Sangu, Noriko, Shimojima, Keiko, Takahashi, Yuya, Ohashi, Tsukasa, Tohyama, Jun, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298938/
https://www.ncbi.nlm.nih.gov/pubmed/28224041
http://dx.doi.org/10.1038/hgv.2017.1
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author Sangu, Noriko
Shimojima, Keiko
Takahashi, Yuya
Ohashi, Tsukasa
Tohyama, Jun
Yamamoto, Toshiyuki
author_facet Sangu, Noriko
Shimojima, Keiko
Takahashi, Yuya
Ohashi, Tsukasa
Tohyama, Jun
Yamamoto, Toshiyuki
author_sort Sangu, Noriko
collection PubMed
description A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
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spelling pubmed-52989382017-02-21 A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism Sangu, Noriko Shimojima, Keiko Takahashi, Yuya Ohashi, Tsukasa Tohyama, Jun Yamamoto, Toshiyuki Hum Genome Var Data Report A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient. Nature Publishing Group 2017-02-09 /pmc/articles/PMC5298938/ /pubmed/28224041 http://dx.doi.org/10.1038/hgv.2017.1 Text en Copyright © 2017 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
Sangu, Noriko
Shimojima, Keiko
Takahashi, Yuya
Ohashi, Tsukasa
Tohyama, Jun
Yamamoto, Toshiyuki
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title_full A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title_fullStr A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title_full_unstemmed A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title_short A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
title_sort 7q31.33q32.1 microdeletion including lrrc4 and grm8 is associated with severe intellectual disability and characteristics of autism
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298938/
https://www.ncbi.nlm.nih.gov/pubmed/28224041
http://dx.doi.org/10.1038/hgv.2017.1
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