A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.
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ABSTRACT:
SUBMITTER: Morisada N
PROVIDER: S-EPMC5023786 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.
Morisada Naoya N Ioroi Tomoaki T Taniguchi-Ikeda Mariko M Juan Ye Ming M Okamoto Nobuhiko N Yamamoto Toshiyuki T Iijima Kazumoto K
Human genome variation 20160915
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. ...[more]
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