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

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2564-2569

  Dimassi, Sarra ^a   Andrieux, Joris ^b   Labalme, Audrey ^a   Lesca, Gaétan ^a,c   Cordier, Marie Pierre ^a   Boute, Odile ^b   Neut, Dorothée ^d   Edery, Patrick ^a,c   Sanlaville, Damien ^a,c   Schluth Bolard, Caroline ^a,c  

^a HOSPICES CIVILS DE LYON   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ LYON 1   (France)

^d Service de Pédiatrie   (France)

Author keywords

12p13.1 deletion; ACGH; GRIN2B; Intellectual disability; NMDA receptor

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B;

ADULT; ARTICLE; AUTISM; BRAIN DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GRIN2B GENE; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; OTITIS; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SLEEP DISORDER; SMALL FOR DATE INFANT; SPEECH DELAY; SYNAPTOGENESIS;

12P13.1 DELETION; ACGH; GRIN2B; INTELLECTUAL DISABILITY; NMDA RECEPTOR;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FACIES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; RECEPTORS, N-METHYL-D-ASPARTATE; YOUNG ADULT;

EID: 84884986095     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36079     Document Type: Article

References (24)

1. Akashi K, Kakizaki T, Kamiya H, Fukaya M, Yamasaki M, Abe M, Natsume R, Watanabe M, Sakimura K. 2009. NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses. J Neurosci 29:10869-10882.
2. Aragam N, Wang KS, Anderson JL, Liu X. 2012. TMPRSS9 and GRIN2B are associated with neuroticism: A genome-wide association study in a European sample. J Mol Neurosci 50:250-256.
3. Beneyto M, Kristiansen LV, Oni-Orisan A, McCullumsmith RE, Meador-Woodruff JH. 2007. Abnormal glutamate receptor expression in the medial temporal lobe in schizophrenia and mood disorders. Neuropsychopharmacology 32:1888-1902.
4. Cull-Candy S, Brickley S, Farrant M. 2001. NMDA receptor subunits: Diversity, development and disease. Curr Opin Neurobiol 11:327-335.
5. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921-1929.
6. de Quervain DJ, Papassotiropoulos A. 2006. Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. Proc Natl Acad Sci USA 103:4270-4274.
7. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. 2010. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42:1021-1026.
8. Hestrin S. 1992. Developmental regulation of NMDA receptor-mediated synaptic currents at a central synapse. Nature 357:686-689.
9. Kristiansen LV, Bakir B, Haroutunian V, Meador-Woodruff JH. 2010. Expression of the NR2B-NMDA receptor trafficking complex in prefrontal cortex from a group of elderly patients with schizophrenia. Schizophr Res 119:198-209.
10. Liu L, Ishihara K, Ichimura T, Fujita N, Hino S, Tomita S, Watanabe S, Saitoh N, Ito T, Nakao M. 2009. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. J Biol Chem 284:5165-5174.
11. Loftis JM, Janowsky A. 2003. The N-methyl-d-aspartate receptor subunit NR2B: Localization, functional properties, regulation, and clinical implications. Pharmacol Ther 97:55-85.
12. Ludwig KU, Roeske D, Herms S, Schumacher J, Warnke A, Plume E, Neuhoff N, Bruder J, Remschmidt H, Schulte-Korne G, Muller-Myhsok B, Nothen MM, Hoffmann P. 2010. Variation in GRIN2B contributes to weak performance in verbal short-term memory in children with dyslexia. Am J Med Genet Part B 153B:503-511.
13. Mishina M, Mori H, Araki K, Kushiya E, Meguro H, Kutsuwada T, Kashiwabuchi N, Ikeda K, Nagasawa M, Yamazaki M, Masaki H, Yamakura T, Morita T, Sakimura K. 1993. Molecular and functional diversity of the NMDA receptor channel. Ann N Y Acad Sci 707:136-152.
14. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. 2011. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43:585-589.
15. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. 2012a. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338:1619-1622.
16. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. 2012b. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485:246-250.
17. Ocklenburg S, Arning L, Hahn C, Gerding WM, Epplen JT, Gunturkun O, Beste C. 2011. Variation in the NMDA receptor 2B subunit gene GRIN2B is associated with differential language lateralization. Behav Brain Res 225:284-289.
18. Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, Arning L. 2011. NMDA receptor gene variations as modifiers in Huntington disease: A replication study. PLoS Curr 3: RRN1247.
19. Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J. 2009. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases. Eur J Med Genet 52:291-296.
20. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. 2012. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149:525-537.
21. Tang YP, Shimizu E, Dube GR, Rampon C, Kerchner GA, Zhuo M, Liu G, Tsien JZ. 1999. Genetic enhancement of learning and memory in mice. Nature 401:63-69.
22. Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion E, Millet B, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafreniere RG, Rouleau GA, Krebs MO. 2011. Rare mutations in N-methyl-d-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry 1:e55.
23. Vink JM, Smit AB, de Geus EJ, Sullivan P, Willemsen G, Hottenga JJ, Smit JH, Hoogendijk WJ, Zitman FG, Peltonen L, Kaprio J, Pedersen NL, Magnusson PK, Spector TD, Kyvik KO, Morley KI, Heath AC, Martin NG, Westendorp RG, Slagboom PE, Tiemeier H, Hofman A, Uitterlinden AG, Aulchenko YS, Amin N, van Duijn C, Penninx BW, Boomsma DI. 2009. Genome-wide association study of smoking initiation and current smoking. Am J Hum Genet 84:367-379.
24. Wang CC, Held RG, Chang SC, Yang L, Delpire E, Ghosh A, Hall BJ. 2011. A critical role for GluN2B-containing NMDA receptors in cortical development and function. Neuron 72:789-805.