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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Detalles Bibliográficos
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
Descripción
Sumario: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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