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Researchers have found an uncommon mutation in hSERT, in some unrelated families with OCD, that leads to faulty serotonin transporter function and regulation. A second variant in the same gene of some patients with this mutation suggests a genetic "double hit," resulting in greater biochemical effects and more severe symptoms.

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  • Hu, X.-Z.; Lipsky, R. H.; Zhu, G.; Akhtar, L. A.; Taubman, J.; Greenberg, B. D.; Xu, K.; Arnold, P. D.; Richter, M. A.; Kennedy, J. L.; Murphy, D. L.; Goldman, D. (2006). Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. Am. J. Hum. Genet. 78: 815-826, PubMed ID : 16642437
  • Ursu, S.; Stenger, V. A.; Shear, M. K.; Jones, M. R.; Carter, C. S. (2003).Overactive action monitoring in obsessive-compulsive disorder: evidence from functional magnetic resonance imaging. Psychol. Sci. 14: 347-353, PubMed ID : 12807408

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