Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
- PMID: 23918416
- DOI: 10.1002/ajmg.a.36079
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
Abstract
We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric glutamate-activated ion channel, present throughout the central nervous system. It plays a critical role in corticogenesis, neuronal migration, and synaptogenesis during brain development. GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.
Keywords: 12p13.1 deletion; GRIN2B; NMDA receptor; aCGH; intellectual disability.
Copyright © 2013 Wiley Periodicals, Inc.
Similar articles
-
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16. J Med Genet. 2014. PMID: 24133203
-
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.Am J Med Genet A. 2015 Jan;167A(1):164-8. doi: 10.1002/ajmg.a.36759. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425123
-
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.
-
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.Am J Med Genet A. 2015 Feb;167A(2):438-44. doi: 10.1002/ajmg.a.36872. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428890 Review.
-
Human GRIN2B variants in neurodevelopmental disorders.J Pharmacol Sci. 2016 Oct;132(2):115-121. doi: 10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19. J Pharmacol Sci. 2016. PMID: 27818011 Free PMC article. Review.
Cited by
-
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.Child Neurol Open. 2016 Apr 4;3:2329048X16629980. doi: 10.1177/2329048X16629980. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503605 Free PMC article.
-
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.Neurosci Bull. 2018 Jun;34(3):549-565. doi: 10.1007/s12264-017-0191-5. Epub 2017 Nov 10. Neurosci Bull. 2018. PMID: 29124671 Free PMC article. Review.
-
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.Hum Genome Var. 2016 Sep 15;3:16029. doi: 10.1038/hgv.2016.29. eCollection 2016. Hum Genome Var. 2016. PMID: 27656287 Free PMC article.
-
Frailty Index associates with GRIN2B in two representative samples from the United States and the United Kingdom.PLoS One. 2018 Nov 26;13(11):e0207824. doi: 10.1371/journal.pone.0207824. eCollection 2018. PLoS One. 2018. PMID: 30475886 Free PMC article.
-
RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.PLoS One. 2017 Jan 23;12(1):e0170464. doi: 10.1371/journal.pone.0170464. eCollection 2017. PLoS One. 2017. PMID: 28114311 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous
