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Molecular Psychiatry
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A novel frameshift mutation inUPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

Molecular Psychiatryvolume 16, pages238–239 (2011)Cite this article

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ACorrigendum to this article was published on 07 September 2010

Childhood onset schizophrenia (COS) is a rare, severe form of schizophrenia for which definitive genetic causes remain elusive.1,2 In this study, we report a novel 4-nucleotide deletion in theUPF3B gene, predicted to create a truncated protein, transmitted from a healthy mother to two affected brothers: one with comorbid diagnoses of COS, pervasive developmental disorder not otherwise specified and attention deficit hyperactivity disorder (ADHD), and the other with autism and ADHD. This work provides evidence thatUPF3B, already described as a cause of syndromic and nonsyndromic X-linked mental retardation with or without autism,3,4 is also involved in COS, autism spectrum disorders and ADHD.

Given that the asymptomatic mother was a carrier of the p.Q228fsX18 mutation identified in this study, we determined her X Chromosome Inactivation profile with the Human Androgen Receptor Gene (HUMARA) assay as described previously,6 using 200 ng of genomic DNA from peripheral blood. Only 24% of mother's blood cells expressed the X chromosome harboring the mutation, indicating that the mother showed a moderately skewed X inactivation pattern with a preferential inactivation (76:24) of the mutated X chromosome allele.

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Author information

Authors and Affiliations

  1. Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD, USA

    A M Addington, N Gogtay, R Miller, J Tossell, J Bakalar, G Germain, P Gochman, R Long & J L Rapoport

  2. Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l’Université de Montréal, Montréal, QC, Canada

    J Gauthier, A Piton, A Raymond & G A Rouleau

  3. Department of Medicine, Université of Montréal, Montréal, QC, Canada

    J Gauthier, A Piton, A Raymond & G A Rouleau

  4. Centre of Excellence in Neuromics of Université de Montréal, CHU Sainte-Justine Research Center, Montréal, QC, Canada

    F F Hamdan

Authors
  1. A M Addington
  2. J Gauthier
  3. A Piton
  4. F F Hamdan
  5. A Raymond
  6. N Gogtay
  7. R Miller
  8. J Tossell
  9. J Bakalar
  10. G Germain
  11. P Gochman
  12. R Long
  13. J L Rapoport
  14. G A Rouleau

Corresponding author

Correspondence toA M Addington.

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The authors declare no conflict of interest.

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Addington, A., Gauthier, J., Piton, A.et al. A novel frameshift mutation inUPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.Mol Psychiatry16, 238–239 (2011). https://doi.org/10.1038/mp.2010.59

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