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

被引：7

作者：

Morisada N. ^{[1
,2
]}

Ioroi T. ^{[3
]}

Taniguchi-Ikeda M. ^{[2
]}

Ye M.J. ^{[2
]}

Okamoto N. ^{[4
]}

Yamamoto T. ^{[5
]}

Iijima K. ^{[2
]}

机构：

[1] Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe

[2] Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe

[3] Department of Pediatrics, Japanese Red Cross Society Himeji Hospital, Himeji

[4] Department of Medical Genetics, Osaka Medical Center, Research Institute for Maternal and Child Health, Osaka

[5] Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Tokyo

来源：

Human Genome Variation | / 3卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/hgv.2016.29

中图分类号：

学科分类号：

摘要：

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. © The Author(s) 2016.

引用

共 50 条

[1] Interstitial 12p13.1 Deletion Involving GRIN2B in Three Patients With Intellectual Disability
Dimassi, Sarra
Andrieux, Joris
Labalme, Audrey
Lesca, Gaetan
Cordier, Marie-Pierre
Boute, Odile
Neut, Dorothee
Edery, Patrick
Sanlaville, Damien
Schluth-Bolard, Caroline
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (10) : 2564 - 2569
[2] Functional Changes of a De Novo GRIN2B Missense Mutation in a Patient with Developmental Delay
Yuan, Hongjie
Swanger, Sharon A.
Wells, Gordon
Hansen, Kasper B.
Adams, David R.
Boerkoel, Cornelius F.
Toro, Camilo
Gahl, William A.
Synder, James P.
Traynelis, Stephen F.
[J]. ANNALS OF NEUROLOGY, 2014, 76 : S74 - S74
[3] Report on 3 patients with 12p duplication including GRIN2B
Poirsier, Celine
Landais, Emilie
Bednarek, Nathalie
Nobecourt, Jean-Marie
Khoury, Maroun
Schmidt, Pascal
Morville, Patrice
Gruson, Nadine
Clomes, Sandrine
Michel, Nicole
Riot, Anita
Manjeongean, Christelle
Gaillard, Dominique
Doco-Fenzy, Martine
[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (05) : 185 - 194
[4] MAPPING OF THE HUMAN NMDAR2B RECEPTOR SUBUNIT GENE (GRIN2B) TO CHROMOSOME 12P12
MANDICH, P
SCHITO, AM
BELLONE, E
ANTONACCI, R
FINELLI, P
ROCCHI, M
AJMAR, F
[J]. GENOMICS, 1994, 22 (01) : 216 - 218
[5] The GRIN2B and GRIN2A Gene Variants Are Associated With Continuous Performance Test Variables in ADHD
Kim, Johanna Inhyang
Kim, Jae-Won
Park, Subin
Hong, Soon-Beom
Lee, Dong Soo
Paek, Sun Ha
Han, Doug Hyun
Cheong, Jae Hoon
Kim, Bung-Nyun
[J]. JOURNAL OF ATTENTION DISORDERS, 2020, 24 (11) : 1538 - 1546
[6] GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia
Mascheretti, Sara
Facoetti, Andrea
Giorda, Roberto
Beri, Silvana
Riva, Valentina
Trezzi, Vittoria
Cellino, Maria R.
Marino, Cecilia
[J]. PSYCHIATRIC GENETICS, 2015, 25 (01) : 9 - 20
[7] HTR and GRIN2B Variant Associated with Cognition Dysfunction in Electric Workers
WANG Li Feng
LI Hai Juan
REN Cai Xia
ZOU Yong
QIAO Si Mo
ZHI Wei Jia
WANG Chang Zhen
ZHAO Li
DONG Ji
XU Xin Ping
HU Shao Hua
PENG Rui Yun
HU Xiang Jun
[J]. Biomedical and Environmental Sciences, 2019, 32 (03) : 220 - 225
[8] Variations in the GRIN2B gene are associated with risky decision-making
Ness, Vanessa
Arning, Larissa
Niesert, Hanna E.
Stuettgen, Maik C.
Epplen, Joerg T.
Beste, Christian
[J]. NEUROPHARMACOLOGY, 2011, 61 (5-6) : 950 - 956
[9] Dimensional Traits of Psychosis Associated with Nmda Receptor GRIN2B Polymorphism
Vora, Anvi
New, Antonia
Hazlett, Erin
Yuan, Qiaoping
Zhou, Zhifeng
Hodgkinson, Colin
Goldman, David
Siever, Larry
Roussos, Panos
Perez-Rodriguez, M. Mercedes
[J]. NEUROPSYCHOPHARMACOLOGY, 2015, 40 : S549 - S549
[10] HTR and GRIN2B Variant Associated with Cognition Dysfunction in Electric Workers
Wang Li Feng
Li Hai Juan
Ren Cai Xia
Zou Yong
Qiao Si Mo
Zhi Wei Jia
Wang Chang Zhen
Zhao Li
Dong Ji
Xu Xin Ping
Hu Shao Hua
Peng Rui Yun
Hu Xiang Jun
[J]. BIOMEDICAL AND ENVIRONMENTAL SCIENCES, 2019, 32 (03) : 220 - 225

← 1 2 3 4 5 →