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Gene mutation in rare familial form of Obsessive-Compulsive Disorder (OCD)

Investigations of a new, uncommon coding region variant, I425V, in the serotonin transporter gene in 112 OCD patients found this variant in two families with OCD. Six of the seven family members who had the mutation had either OCD or obsessive-compulsive personality disorder. The seven other family members without the mutation did not have OCD. The mutation is rare and it is estimated that 2% or less of individuals with OCD may have it.

ARTICLE: "Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype"

AUTHORS: Norio Ozaki, David Goldman, Walter H Kaye, Katherine Plotnicov, Benjamin D Greenberg, Jaakko Lappalainen, Gary Rudnick, Dennis L Murphy

Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan; Laboratory of Neurogenetics, NIAAA, NIH, Rockville, MD, USA; Department of Psychiatry, University of Pittsburgh Medical Center, Western Psychiatric Institute & Clinic, Iroquois Building, Pittsburgh, PA, USA; Butler Hospital, Providence, RI, USA; Department of Psychiatry, Brown University School of Medicine, USA; Yale University School of Medicine, VA Connecticut Healthcare System, Psychiatry 116A2, West Haven, CT, USA; Department of Pharmacology, Yale University School of Medicine, New Haven, CT, USA; Laboratory of Clinical Science, MSC 1264, NIMH, NIH, Bethesda, MD, USA

Prior research has shown that several gene variants are more common in individuals with obsessive-compulsive disorder (OCD) than other patient groups or controls, but the differences are not specific to OCD.

Investigations of a new, uncommon coding region variant, I425V, in the serotonin transporter gene in 112 OCD patients and 271 patients with other psychiatric disorders plus controls, found this new variant only in two families with OCD. In this multi-generational study, six of the seven family members who had the mutation had either OCD or obsessive-compulsive personality disorder. Th
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Contact: Aimee Midei
molecularpsychiatry@mednet.ucla.edu
310-206-6739
Molecular Psychiatry
10-Nov-2003


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