Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. Issue 10 (5th August 2013)

• Record Type: Journal Article
• Authors: Dimassi, Sarra; Andrieux, Joris; Labalme, Audrey; Lesca, Gaétan; Cordier, Marie‐Pierre; Boute, Odile; Neut, Dorothée; Edery, Patrick; Sanlaville, Damien; Schluth‐Bolard, Caroline
• Is Part Of: American journal of medical genetics. Volume 161:Issue 10(2013:Oct.)
• Page Start: 2564
• Page End: 2569
• Publication Date: 2013-08-05
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36079
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36079-sec-0001" sec-type="section"> <p>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 <italic>GRIN2B</italic>. <italic>GRIN2B</italic> encodes the NR2B subunit of the <italic>N</italic>‐methyl‐<sc>D</sc>‐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. <italic>GRIN2B</italic> 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 <italic>GRIN2B</italic> deletion, enlarging the spectrum of <italic>GRIN2B</italic> abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>