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 journalArticle

7 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
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Genetics
  • Molecular Biology

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