title: 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.
authors.affiliation: Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.
authors.forename: Sarra
authors.initials: S
authors.lastname: Dimassi
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Gaétan
authors.initials: G
authors.lastname: Lesca
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Cordier
authors.forename: Odile
authors.initials: O
authors.lastname: Boute
authors.forename: Dorothée
authors.initials: D
authors.lastname: Neut
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D005091:Exons; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D055815:Young Adult
chemical_list: C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate
keywords: 12p13.1 deletion; GRIN2B; NMDA receptor; aCGH; intellectual disability