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

Naoya Morisada, Tomoaki Ioroi, Mariko Ikeda, Ming Juan Ye, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kazumoto Iijima

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number16029
JournalHuman Genome Variation
Volume3
DOIs
Publication statusPublished - 15-09-2016

Fingerprint

Megalencephaly
N-Methyl-D-Aspartate Receptors
Aberrations
Intellectual Disability
Genes
Proteins
Chromosome 12p partial deletion
Neurodevelopmental Disorders

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Genetics
  • Molecular Biology

Cite this

Morisada, N., Ioroi, T., Ikeda, M., Ye, M. J., Okamoto, N., Yamamoto, T., & Iijima, K. (2016). A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Human Genome Variation, 3, [16029]. https://doi.org/10.1038/hgv.2016.29
Morisada, Naoya ; Ioroi, Tomoaki ; Ikeda, Mariko ; Ye, Ming Juan ; Okamoto, Nobuhiko ; Yamamoto, Toshiyuki ; Iijima, Kazumoto. / A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. In: Human Genome Variation. 2016 ; Vol. 3.
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A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. / Morisada, Naoya; Ioroi, Tomoaki; Ikeda, Mariko; Ye, Ming Juan; Okamoto, Nobuhiko; Yamamoto, Toshiyuki; Iijima, Kazumoto.

In: Human Genome Variation, Vol. 3, 16029, 15.09.2016.

Research output: Contribution to journalArticle

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AU - Yamamoto, Toshiyuki

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