Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
Version of Record online: 5 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2564–2569, October 2013
How to Cite
2013. Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. Am J Med Genet Part A 161A:2564–2569., , , , , , , , , .
- Issue online: 17 SEP 2013
- Version of Record online: 5 AUG 2013
- Manuscript Accepted: 13 MAY 2013
- Manuscript Received: 21 DEC 2012
- French Ministry of Health
- 12p13.1 deletion;
- intellectual disability;
- NMDA receptor
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.