An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: Is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?

Journal of Intellectual Disability Research

Volumn 51, Issue 8, 2007, Pages 620-624

  Shelley, Bhaskara P ^a,b   Robertson, M M ^c,d   Turk, J ^d  

^a ROYAL HOSPITAL   (Oman)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Genetics; Gillesde la Tourette syndrome; Microdeletion syndrome; Neurobehaviour; Psychopathology; Smith Magenis syndrome

Indexed keywords

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COGNITION; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SUSCEPTIBILITY; GENOMICS; GILLES DE LA TOURETTE SYNDROME; HUMAN; MALE; MEDICAL RESEARCH; MENTAL DISEASE; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; OBSESSIVE COMPULSIVE DISORDER; PHENOTYPE; QUANTITATIVE TRAIT LOCUS; SMITH MAGENIS SYNDROME; TIC;

EID: 34447125942     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2006.00943.x     Document Type: Article

References (23)

1. Abelson J. F., Kwan K. Y., O'Roak B. J., Baek D. Y., Stillman A. A., Morgan T. M., Mathews C. A., Pauls D. L., Rasin M. R., Gunel M., Davis N. R., Ercan-Sencicek A. G., Gues D. H., Spertus J. A., Leckman J. F., Dure L. S. IV, Kurlan R., Singer H. S., Gilbert D. L., Farhi A., Louvi A., Lifton R. P., Sestan N. & State M. W. (2005) Sequence variants in SLITRK1 are associated with Tourette syndrome. Science 310, 317-20.
2. Chen K. S., Manian P., Koeuth T., Potocki L., Zhao Q., Chinault A. C., Lee C. C. & Lupski J. R. (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genetics 17, 154-64.
3. Cuker A., State M. W., King R. A. & Ward D. C. (2004) Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/ chronic tic disorder at 18q22. American Journal of Medical Genetics 130, 37-9.
4. De Leersnyder H., De Blois M. C., Vekemans M., Sidi D., Villain E., Kindermans C. & Munnich A. (2001) Beta (1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. Journal of Medical Genetics 38, 586-90.
5. Diaz-Anzaldua A., Joober R., Riviere J. B., Dion Y., Lesperance P., Chouinard S., Richer F. & Rouleau G. A. (2004) Association between 7q31 markers and Tourette syndrome. American Journal of Medical Genetics 127, 17-20.
6. Diaz-Anzaldua A., Riviere J. B., Dube M. P., Joober R., Saint-Onge J., Dion Y., Lesperance P., Richer F., Chouinard S., Rouleau G. A. & Montreal Tourette Syndrome Study Group. (2005) Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population. American Journal of Medical Genetics 138, 225-8.
7. Dykens E. M. & Smith A. C. (1998) Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. Journal of Intellectual Disability Research 42, 481-9.
8. Finucane B. M., Konar D., Hass-Givler B., Kurtz M. B. & Scott C. I. Jr. (1994) The spasmodic upper-body squeeze: A characteristic behaviour in Smith-Magenis syndrome. Developmental Medicine and Child Neurology 36, 78-83.
9. Finucane B., Dirrigl K. H. & Simon E. W. (2001) Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. American Journal on Mental Retardation 106, 52-8.
10. Gaffney G. R., Sieg K. G. & Hellings J. A. (1994) The MOVES: A self-rating scale for Tourette's syndrome. Journal of Child and Adolescent Psychopharmacology 4, 269-80.
11. Greenberg F., Guzzetta V., De Oca-Luna R. M., Magenis R. E., Smith A. C. M., Richler F., Kondo I., Dobyns W. B., Patel P. I. & Lupski J. R. (1991) Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del (17) (p11.2). American Journal of Human Genetics 49, 1207-18.
12. Leckman J. F., Riddle M. A., Hardin M. T., Ort S. I., Swartz K. L., Stevenson J. & Cohen D. J. (1989) The Yale Global Tic Severity Scale: Initial testing of a clinician-rated scale of tic severity. Journal of the American Academy of Child and Adolescent Psychiatry 28, 566-73.
13. Pauls D. L. (2003) An update on the genetics of Gilles de la Tourette syndrome. Journal of Psychosomatic Research 55, 7-12.
14. Robertson M. M. (2000) Invited review. Tourette syndrome associated conditions and the complexities of treatment. Brain 123, 425-62.
15. Robertson M. M. (2003) The heterogenous psychopathology of Tourette syndrome. In: Mental and Behavioural Dysfunction in Movement Disorders (eds M. A. Bedard, Y. Agid, S. Chouinard, S. Fahn, A. D. Korczyn & P. Lesperance), pp. 443-65. Humana Press, Totowa, NJ.
16. Robertson M. M. & Eapen V. (1996) The National Hospital Interview Schedule for the assessment of Gilles de la Tourette syndrome and related behaviours. International Journal of Methodology and Psychiatry Research 6, 203-26.
17. Robertson M. M., Banerjee S., Kurlan R., Cohen D. J., Leckman J. F., McMahon W., Pauls D. L., Sandor P. & van de Wetering B. J. (1999) The Tourette syndrome diagnostic confidence index: Development and clinical associations. Neurology 53, 2108-12.
18. Shelley B. P. & Robertson M. M. (2005) The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: A review. Journal of Neuropsychiatry and Clinical Neuroscience 17, 91-7.
19. Slager R. E., Newton T. L., Vlangos C. N., Finucane B. & Elsea S. H. (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genetics 33, 466-8.
20. Smith A. C., McGavran L., Robinson J., Waldstein G., Macfarlane J., Zonona J., Reiss J., Lahr M., Allen L. & Magenis E. (1986) Interstitial deletion of (17) (p11.2p11.2) in nine patients. American Journal of Medical Genetics 24, 393-414.
21. Smith A. C., Magenis R. E. & Elsea S. H. (2005) Overview of Smith-Magenis syndrome. Journal of the Association of Genetic Technologists 31, 163-7.
22. State M. W., Greally J. M., Cuker A., Bowers P. N., Henegariu O., Morgan T. M., Gunel M., DiLuna M., King R. A., Nelson C., Donovan A., Anderson G. M., Leckman J. F., Hawkins T., Pauls D. L., Lifton R. P. & Ward D. C. (2003) Epigenetic abnormalities associated with chromosome 18 (q21-q22) inversion and Gilles de la Tourette syndrome phenotype. Proceedings of the National Academy of Sciences of the United States of America 100, 4684-9.
23. Udwin O., Webber C. & Horn I. (2001) Abilities and attainment in Smith-Magenis syndrome. Developmental Medicine and Child Neurology 43, 823-8.