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Case Reports
. 2011 Mar;16(3):238-9.
doi: 10.1038/mp.2010.59. Epub 2010 May 18.

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

A M Addington, J Gauthier, A Piton, F F Hamdan, A Raymond, N Gogtay, R Miller, J Tossell, J Bakalar, G Inoff-Germain, P Gochman, R Long, J L Rapoport, G A Rouleau
Case Reports

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

A M Addington et al. Mol Psychiatry. 2011 Mar.

Erratum in

  • Mol Psychiatry. 2012 Apr;17(4):468. Germain, G [corrected to Inoff-Germain, G]
No abstract available

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Conflict of interest statement

Conflict of interest

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Identification of a 4-nucleotide deletion (c.683_686delAAGA, p.Q228fsX18) in UPF3B in two brothers with childhood onset schizophrenia (COS), autism spectrum disorder (ASD) and comorbid attention deficit hyperactivity disorder (ADHD). (a) Segregation of the protein-truncating mutation in the family. The proband is indicated by the arrow. (b) Chromatograms containing UPF3B mutation for the patient, brother, father and mother. (c) Alignment of UPF3B orthologous peptide sequences near the Q228fsX18 truncating mutation (marked by an asterisk (*)) showing amino-acid conservation of the Q228 nearby residues in several species.
See this image and copyright information in PMC

References

    1. Rapoport JL, Addington AM, Frangou S. Mol Psychiatry. 2005;10:434–449. - PubMed
    1. Addington AM, Rapoport JL. Curr Psychiatry Rep. 2009;11:156–161. - PMC - PubMed
    1. Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, et al. Mol Psychiatry. 2009 e-pub ahead of print 24 February 2009. - PubMed
    1. Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, et al. Nat Genet. 2007;39:1127–1133. - PMC - PubMed
    1. Gauthier J, Spiegelman D, Piton A, Lafreniere RG, Laurent S, St-Onge J, et al. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:421–424. - PubMed

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