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Case Reports in Medicine
Volume 2009 (2009), Article ID 361518, 5 pages
http://dx.doi.org/10.1155/2009/361518
Case Report

Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication

1St George Clinical School, Faculty of Medicine, St George Hospital, University of NSW, Kogarah, NSW 2217, Australia
2Movement Disorders Clinics, Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, ML # 11006 - Neurology, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA

Received 14 July 2009; Accepted 26 October 2009

Academic Editor: Jean-Pierre Fryns

Copyright © 2009 Raymond A. Clarke et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. R. Tracy, J. P. Dormans, and K. Kusumi, “Klippel-Feil syndrome: clinical features and current understanding of etiology,” Clinical Orthopaedics and Related Research, vol. 424, pp. 183–190, 2004. View at Google Scholar
  2. H. S. Singer, “Tourette's syndrome: from behaviour to biology,” The Lancet Neurology, vol. 4, no. 3, pp. 149–159, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. K. M. Harris, E. M. Mahone, and H. S. Singer, “Nonautistic motor stereotypies: clinical features and longitudinal follow-up,” Pediatric Neurology, vol. 38, no. 4, pp. 267–272, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. F. Cardoso and J. Jankovic, “Movement disorders,” Neurologic Clinics, vol. 11, no. 3, pp. 625–638, 1993. View at Google Scholar · View at Scopus
  5. C. E. Healy, “Gilles de la Tourette's syndrome (maladie des tics). Successful treatment with haloperidol,” American Journal of Diseases of Children, vol. 120, pp. 62–63, 1970. View at Google Scholar
  6. D. F. Wong, J. R. Brasic, H. S. Singer et al., “Mechanisms of dopaminergic and serotonergic neurotransmission in Tourette syndrome: clues from an in vivo neurochemistry study with PET,” Neuropsychopharmacology, vol. 33, no. 6, pp. 1239–1251, 2008. View at Publisher · View at Google Scholar · View at Scopus
  7. M. M. Robertson, B. P. Shelley, S. Dalwai et al., “A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome?” Journal of Psychosomatic Research, vol. 61, no. 3, pp. 365–368, 2006. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Gothelf, E. Michaelovsky, A. Frisch et al., “Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome,” International Journal of Neuropsychopharmacology, vol. 10, no. 3, pp. 301–308, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. A. K. Ryan, J. A. Goodship, D. I. Wilson et al., “Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study,” Journal of Medical Genetics, vol. 34, no. 10, pp. 798–804, 1997. View at Google Scholar · View at Scopus
  10. M. F. Portnoi, “Microduplication 22q11.2: a new chromosomal syndrome,” European Journal of Medical Genetics, vol. 52, no. 2-3, pp. 88–93, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. J. Chen, B. K. Lipska, N. Halim et al., “Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mrna, protein, and enzyme activity in postmortem human brain,” American Journal of Human Genetics, vol. 75, no. 5, pp. 807–821, 2004. View at Publisher · View at Google Scholar · View at Scopus
  12. R. Fukumura, H. Takahashi, T. Saito et al., “A sensitive transcriptome analysis method that can detect unknown transcripts,” Nucleic Acids Research, vol. 31, no. 16, article e94, 2003. View at Google Scholar
  13. L. Edelmann, R. K. Pandita, E. Spiteri et al., “A common molecular basis for rearrangement disorders on chromosome 22q11,” Human Molecular Genetics, vol. 8, no. 7, pp. 1157–1167, 1999. View at Publisher · View at Google Scholar · View at Scopus
  14. J. Chen, B. K. Lipska, N. Halim et al., “Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mrna, protein, and enzyme activity in postmortem human brain,” American Journal of Human Genetics, vol. 75, no. 5, pp. 807–821, 2004. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Meyer-Lindenberg, T. Nichols, J. H. Callicott et al., “Impact of complex genetic variation in COMT on human brain function,” Molecular Psychiatry, vol. 11, no. 9, pp. 867–877, 2006. View at Publisher · View at Google Scholar · View at Scopus
  16. E. Michaelovsky, D. Gothelf, M. Korostishevsky et al., “Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS,” International Journal of Neuropsychopharmacology, vol. 11, no. 3, pp. 351–363, 2008. View at Publisher · View at Google Scholar · View at Scopus
  17. D. Gothelf, G. Presburger, A. H. Zohar et al., “Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome,” American Journal of Medical Genetics, Part B, vol. 126B, no. 1, pp. 99–105, 2004. View at Google Scholar · View at Scopus
  18. M. B. Stein, M. D. Fallin, N. J. Schork et al., “COMT polymorphisms and anxiety-related personality traits,” Neuropsychopharmacology, vol. 30, no. 11, pp. 2092–2102, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. G. Zalsman, Y. Y. Huang, J. M. Harkavy-Friedman et al., “Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: a preliminary report,” American Journal of Medical Genetics, Part B, vol. 132B, no. 1, pp. 100–103, 2005. View at Publisher · View at Google Scholar · View at Scopus
  20. R. P. Allen, J. R. Connor, K. Hyland et al., “Abnormally increased CSF 3-Ortho-methyldopa (3-OMD) in untreated restless legs syndrome (RLS) patients indicates more severe disease and possibly abnormally increased dopamine synthesis,” Sleep Medicine, vol. 10, no. 1, pp. 123–128, 2009. View at Publisher · View at Google Scholar · View at Scopus
  21. A. Azzam and C. A. Mathews, “Meta-analysis of the association between the catecholamine-O-methyl-transferase gene and obsessive-compulsive disorder,” American Journal of Medical Genetics, Part B, vol. 123B, no. 1, pp. 64–69, 2003. View at Google Scholar · View at Scopus
  22. N. Craddock, M. J. Owen, and M. C. O'Donovan, “The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons,” Molecular Psychiatry, vol. 11, no. 5, pp. 446–458, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. B. Funke, J. A. Epstein, L. K. Kochilas et al., “Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects,” Human Molecular Genetics, vol. 10, no. 22, pp. 2549–2556, 2001. View at Google Scholar · View at Scopus
  24. S. Merscher, B. Funke, J. A. Epstein et al., “TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome,” Cell, vol. 104, no. 4, pp. 619–629, 2001. View at Publisher · View at Google Scholar · View at Scopus
  25. M. Tassabehji, Z. M. Fang, E. N. Hilton et al., “Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome,” Human Mutation, vol. 29, no. 8, pp. 1017–1027, 2008. View at Publisher · View at Google Scholar · View at Scopus
  26. C. Zweier, H. Sticht, I. Aydin-Yaylagul et al., “Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions,” American Journal of Human Genetics, vol. 80, no. 3, pp. 510–517, 2007. View at Publisher · View at Google Scholar · View at Scopus