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Article

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

American journal of medical genetics. Part A - 1 Oct 2013

Dimassi Sarra, Andrieux Joris, Labalme Audrey, Lesca Gaétan, Cordier Marie-Pierre, Boute Odile, Neut Dorothée, Edery Patrick, Sanlaville Damien, Schluth-Bolard Caroline

Abstract excerpt

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...

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Identifiers

PMID: 23918416
DOI: 10.1002/ajmg.a.36079

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