Consanguineous Iranian kindreds with severe Tourette syndrome

Authors

  • Maria G. Motlagh MD,

    Corresponding author
    1. Child Study Center Yale University School of Medicine, New Haven, Connecticut, USA
    2. Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran
    • Child Study Center, Yale University School of Medicine, I-265 SHM, 230 South Frontage Road, New Haven, Connecticut 06520-7920
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  • Arshia Seddigh MD,

    1. Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran
    2. Department of Psychological Medicine, Institute of Psychiatry at the Maudsley, London, United Kingdom
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  • Behnoosh Dashti MD, MPH,

    1. Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran
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  • James F. Leckman MD,

    1. Child Study Center Yale University School of Medicine, New Haven, Connecticut, USA
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  • Javad Alaghband-Rad MD

    1. Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran
    2. Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada
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  • Potential conflict of interest: None reported.

Abstract

The search for vulnerability genes for Tourette syndrome has been ongoing for nearly three decades. The contribution of recessive loci with reduced penetrance is one possibility that has been difficult to explore. Homozygosity mapping has been successfully used to detect recessive loci within populations with high rates of consanguinity. Using this technique, even quite small inbred families can be informative due to autozygosity in which the two alleles at an autosomal locus are identical by descent (i.e., copies of a single ancestral gene). To explore the utility of this approach, we identified 12 consanguineous Iranian families. Remarkably, these families were seen with an unusual natural history characterized by the early onset of vocal tics and coprolalia and frequent comorbidity with obsessive-compulsive disorder. Genotyping the affected and unaffected members of these pedigrees has the potential to identify rare recessive contributions to this disorder. © 2008 Movement Disorder Society

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