Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

Multiple rare SAPAP3 missense variants in trichotillomania and OCD

Molecular Psychiatry volume 14, pages 6–9 (2009)Cite this article

Obsessive–compulsive disorder (OCD) and the spectrum of associated conditions, such as trichotillomania (TTM), Tourette syndrome and body dysmorphic disorder, affect about 2–4% of the world population.1, 2 Clinically OCD spectrum disorders are characterized by persistent intrusive thoughts (obsessions), repetitive actions (compulsions) and excessive anxiety. Although heritability studies in OCD have shown a 3–12 times increased risk for first-degree relatives and twin studies revealed higher concordance amongst monozygotic twins (80–90%) compared to dizygotic twins (47–50%), the identification of the underlying risk-conferring genetic variation by means of classic genetic association studies has proven to be difficult.3

Recently, it has been shown that mice deficient of the postsynaptic synapse-associated protein 90 (SAP90)/postsynaptic density-95 (PSD95)-associated protein 3 (SAPAP3, also known as Dlgap3) develop an OCD-like phenotype, which includes compulsive grooming and increased anxiety. Interestingly, the phenotype of Sapap3 knock-out mice can be rescued by administering selective serotonin reuptake inhibitors.4

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. Karno M, Golding JM, Sorenson SB, Burnam MA . Arch Gen Psychiatry 1988; 45: 1094–1099.

    Article  CAS  Google Scholar 

  2. Torres AR, Prince MJ, Bebbington PE, Bhugra D, Brugha TS, Farrell M et al. Am J Psychiatry 2006; 163: 1978–1985.

    Article  Google Scholar 

  3. Hemmings SM, Stein DJ . Psychiatr Clin North Am 2006; 29: 411–444.

    Article  Google Scholar 

  4. Welch JM, Lu J, Rodriguiz RM, Trotta NC, Peca J, Ding JD et al. Nature 2007; 448: 894–900.

    Article  CAS  Google Scholar 

  5. Zuchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA et al. Mol Psychiatry 2006; 11: 887–889.

    Article  Google Scholar 

  6. Wendland JR, Kruse MR, Cromer KC, Murphy DL . Neuropsychopharmacology 2007; 32: 2543–2551.

    Article  CAS  Google Scholar 

  7. Taylor WD, MacFall JR, Payne ME, McQuoid DR, Steffens DC, Provenzale JM et al. Psychiatry Res 2005; 139: 1–7.

    Article  Google Scholar 

  8. Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM et al. Am J Hum Genet 2008; 82: 165–173.

    Article  CAS  Google Scholar 

  9. Kryukov GV, Pennacchio LA, Sunyaev SR . Am J Hum Genet 2007; 80: 727–739.

    Article  CAS  Google Scholar 

Download references

Author information

Author notes

  1. S Züchner, J R Wendland and A E Ashley-Koch: These authors contributed equally to this work.

Authors and Affiliations

  1. Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA

    S Züchner, M L Cuccaro & M A Pericak-Vance

  2. Intramural Research Program, Laboratory of Clinical Science, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA

    J R Wendland, K C Timpano & D L Murphy

  3. Center for Human Genetics, Duke University Medical Center, Durham, NC, USA

    A E Ashley-Koch, A L Collins, K N Tran-Viet & K Quinn

  4. Department of Psychiatry, Duke University Medical Center, Durham, NC, USA

    D C Steffens & K R Krishnan

  5. Department of Neurobiology, Duke University Medical Center, Durham, NC, USA

    G Feng

Authors
  1. S Züchner
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J R Wendland
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A E Ashley-Koch
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A L Collins
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K N Tran-Viet
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. K Quinn
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. K C Timpano
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. M L Cuccaro
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. M A Pericak-Vance
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. D C Steffens
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. K R Krishnan
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. G Feng
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. D L Murphy
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to S Züchner.

Additional information

Supplementary Information accompanies the paper on the Molecular Psychiatry website (http://www.nature.com/mp)

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Züchner, S., Wendland, J., Ashley-Koch, A. et al. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Mol Psychiatry 14, 6–9 (2009). https://doi.org/10.1038/mp.2008.83

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/mp.2008.83

This article is cited by

Search

Advanced search

Quick links