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dc.contributor.authorTarabeux, J
dc.contributor.authorKebir, O
dc.contributor.authorHamdan, F F
dc.contributor.authorPiton, A
dc.contributor.authorHenrion, É
dc.contributor.authorMillet, B
dc.contributor.authorFathalli, F
dc.contributor.authorJoober, R
dc.contributor.authorRapoport, J L
dc.contributor.authorFombonne, É
dc.contributor.authorMottron, L
dc.contributor.authorForget-Dubois, N
dc.contributor.authorBoivin, M
dc.contributor.authorMichaud, J L
dc.contributor.authorDrapeau, P
dc.contributor.authorLafrenière, R G
dc.contributor.authorRouleau, G A
dc.contributor.authorKrebs, M-O
dc.contributor.authorGauthier, J.
dc.contributor.authorDeLisi, Lynn E
dc.contributor.authorXiong, L.
dc.contributor.authorSpiegelman, D.
dc.date.accessioned2013-02-25T16:23:15Z
dc.date.issued2011
dc.identifier.citationTarabeux, J., O. Kebir, J. Gauthier, F. F. Hamdan, L. Xiong, A. Piton, D. Spiegelman, et al. 2011. Rare mutations in n-methyl-d-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Translational Psychiatry 1(11): e55.en_US
dc.identifier.issn2158-3188en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10340523
dc.description.abstractPharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA) receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest that autism spectrum disorders (ASD) could be due to an imbalance between excitatory and inhibitory neurotransmission. As part of a project aimed at exploring rare and/or de novo mutations in neurodevelopmental disorders, we have sequenced the seven genes encoding for NMDA receptor subunits (NMDARs) in a large cohort of individuals affected with SCZ or ASD (n=429 and 428, respectively), parents of these subjects and controls (n=568). Here, we identified two de novo mutations in patients with sporadic SCZ in GRIN2A and one de novo mutation in GRIN2B in a patient with ASD. Truncating mutations in GRIN2C, GRIN3A and GRIN3B were identified in both subjects and controls, but no truncating mutations were found in the GRIN1, GRIN2A, GRIN2B and GRIN2D genes, both in patients and controls, suggesting that these subunits are critical for neurodevelopment. The present results support the hypothesis that rare de novo mutations in GRIN2A or GRIN2B can be associated with cases of sporadic SCZ or ASD, just as it has recently been described for the related neurodevelopmental disease intellectual disability. The influence of genetic variants appears different, depending on NMDAR subunits. Functional compensation could occur to counteract the loss of one allele in GRIN2C and GRIN3 family genes, whereas GRIN1, GRIN2A, GRIN2B and GRIN2D appear instrumental to normal brain development and function.en_US
dc.language.isoen_USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.isversionofdoi:10.1038/tp.2011.52en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309470/pdf/en_US
dash.licenseLAA
dc.titleRare Mutations in N-methyl-D-aspartate Glutamate Receptors in Autism Spectrum Disorders and Schizophreniaen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalTranslational Psychiatryen_US
dash.depositing.authorDeLisi, Lynn E
dc.date.available2013-02-25T16:23:15Z
dc.identifier.doi10.1038/tp.2011.52*
dash.authorsorderedfalse
dash.contributor.affiliatedDeLisi, Lynn


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