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

Naoya Morisada; Tomoaki Ioroi; Mariko Taniguchi-Ikeda; Ming Juan Ye; Nobuhiko Okamoto; Toshiyuki Yamamoto; Kazumoto Iijima

doi:10.1038/hgv.2016.29

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

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

Research output: Contribution to journal › Article › peer-review

11 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 language	English
Article number	16029
Journal	Human Genome Variation
Volume	3
DOIs	https://doi.org/10.1038/hgv.2016.29
Publication status	Published - 15-09-2016
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/hgv.2016.29

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title = "A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly",

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.",

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AU - Morisada, Naoya

AU - Ioroi, Tomoaki

AU - Taniguchi-Ikeda, Mariko

AU - Ye, Ming Juan

AU - Okamoto, Nobuhiko

AU - Yamamoto, Toshiyuki

AU - Iijima, Kazumoto

PY - 2016/9/15

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AB - 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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JO - Human Genome Variation

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M1 - 16029

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

Abstract

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