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Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

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Abstract

Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.

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Acknowledgments

The study is supported by The Lundbeck Foundation (R24-A219), and BB is currently funded by a scholarship from the University of Copenhagen.

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Authors and Affiliations

  1. Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark

    Birgitte Bertelsen, Karen Brøndum-Nielsen & Zeynep Tümer

  2. The Tourette Clinic, Department of Pediatrics, Herlev University Hospital, Herlev, Denmark

    Nanette Mol Debes & Liselotte Skov

  3. Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

    Lena E. Hjermind

  4. Section of Neurogenetics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark

    Lena E. Hjermind

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  1. Birgitte Bertelsen
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  2. Nanette Mol Debes
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  3. Lena E. Hjermind
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  4. Liselotte Skov
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  5. Karen Brøndum-Nielsen
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  6. Zeynep Tümer
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Correspondence to Zeynep Tümer.

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Bertelsen, B., Debes, N.M., Hjermind, L.E. et al. Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature. Neurogenetics 14, 197–203 (2013). https://doi.org/10.1007/s10048-013-0372-y

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