Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype

@article{Ozaki2003SerotoninTM,
  title={Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype},
  author={Norio Ozaki and David Goldman and Walter H. Kaye and Katherine H Plotnicov and Benjamin D. Greenberg and Jani Lappalainen and Gary Rudnick and Dennis L. Murphy},
  journal={Molecular Psychiatry},
  year={2003},
  volume={8},
  pages={933-936}
}
Two common serotonin transporter (SERT) untranslated region gene variants have been intensively studied, but remain inconclusively linked to depression and other neuropsychiatric disorders. We now report an uncommon coding region SERT mutation, Ile425Val, in two unrelated families with OCD and other serotonin-related disorders. Six of the seven family members with this mutation had OCD (n=5) or obsessive-compulsive personality disorder (n=1) and some also met diagnostic criteria for multiple… CONTINUE READING

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