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.
authors.affiliation: Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Pediatrics, Japanese Red Cross Society Himeji Hospital , Himeji, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Ioroi
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Taniguchi-Ikeda
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Ming
authors.initials: M
authors.lastname: Juan Ye
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima