Medicine: Sequence variants in SLITRK1 are associated with Tourette's syndrome

Science

Volumn 310, Issue 5746, 2005, Pages 317-320

  Abelson, Jesse F ^a,b   Kwan, Kenneth Y ^b   O'Roak, Brian J ^b   Baek, Danielle Y ^a,b   Stillman, Althea A ^b   Morgan, Thomas M ^b   Mathews, Carol A ^c   Pauls, David L ^d   Rašin, Mladen Roko ^b   Gunel, Murat ^b   Davis, Nicole R ^a,b   Ercan Sencicek, A Gulhan ^a,b   Guez, Danielle H ^b   Spertus, John A ^e   Leckman, James F ^a   Dure IV, Leon S ^f   Kurlan, Roger ^g   Singer, Harvey S ^h   Gilbert, Donald L ⁱ   Farhi, Anita ^b   Louvi, Angeliki ^b   Lifton, Richard P ^b   Šestan, Nenad ^b   State, Matthew W ^a,b   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^f University of Alabama at Birmingham   (United States)

^g UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CULTURE; CHROMOSOMES; NEUROLOGY; RNA;

DENDRITIC GROWTH; MUTATION; PROXIMITY; TOURETTE'S SYNDROME (TS);

DISEASES;

MESSENGER RNA; MICRORNA; PROTEIN HSA MIR 189; UNCLASSIFIED DRUG; DNA; MEMBRANE PROTEIN; NERVE PROTEIN; SLITRK1 PROTEIN, HUMAN;

MEDICINE;

ARTICLE; BINDING SITE; CHROMOSOME 13Q; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GILLES DE LA TOURETTE SYNDROME; HUMAN; NERVE CELL CULTURE; NEUROPSYCHIATRY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SLITRK1 GENE; TIC; VOCAL CORD; WILD TYPE; 3' UNTRANSLATED REGION; ADOLESCENT; ANIMAL; ATTENTION DEFICIT DISORDER; BRAIN; CASE REPORT; CHILD; CHROMOSOME 13; CHROMOSOME INVERSION; CHROMOSOME MAP; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; MALE; METABOLISM; MOUSE; MUTATION; PEDIGREE; PRESCHOOL CHILD;

3' UNTRANSLATED REGIONS; ADOLESCENT; ANIMALS; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MEMBRANE PROTEINS; MICE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; TOURETTE SYNDROME;

EID: 26844498125     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1116502     Document Type: Article

References (28)

1. H. Hornse, S. Banerjee, H. Zeitlin, M. Robertson, J. Child Psychol. Psychiatry 42, 1035 (2001).
2. M. M. Robertson, J. Psychosom. Res. 55, 3 (2003).
3. R. Kurlan et al., Neurology 59, 414 (2002).
4. R. L. O'Sullivan et al., Biol. Psychiatry 42, 39 (1997).
5. J. F. Leckman, Lancet 360, 1577 (2002).
6. D. L. Pauls, J. Psychosom. Res. 55, 7 (2003).
7. D. L. Pauls, J. F. Leckman, N. Engl. J. Med. 315, 993 (1986).
8. J. T. Walkup et al., Am. J. Hum. Genet. 59, 684 (1996).
9. C. Merette et al., Am. J. Hum. Genet. 67, 1008 (2000).
10. P. Paschou et al., Am. J. Hum. Genet. 75, 545 (2004).
11. H. Zhang et al., Am. J. Hum. Genet. 70, 896 (2002).
12. The Tourette Syndrome Association International Consortium for Genetics, Am. J. Hum. Genet 65, 1428 (1999).
13. H. S. Singer, Lancet Neurol. 4, 149 (2005).
14. R. Kurlan, V. Eapen, J. Stern, M. P. McDermott, M. M. Robertson, Neurology 44, 2336 (1994).
15. P. A. Hanna, F. N. Janjua, C. F. Contant, J. Jankovic, Neurology 53, 813 (1999).
16. Materials and methods are available as supporting material on Science Online.
17. J. Aruga, K. Mikoshiba, Mol. Cell. Neurosci. 24, 117 (2003).
18. J. Aruga, N. Yokota, K. Mikoshiba, Gene 315, 87 (2003).
19. P. Oelkers, L. C. Kirby, J. E. Heubi, P. A. Dawson, J. Clin. Invest. 99, 1880 (1997),
20. T. Nouspikel, S. G. Clarkson, Hum. Mol. Genet. 3, 963 (1994).
21. D. A. Kleinjan, V. van Heyningen, Am. J. Hum. Genet. 76, 8 (2005).
22. E. A. Miska et al., Genome Biol. 5, R68 (2004).
23. M. Lagos-Quintana, R. Rauhut, J. Meyer, A. Borkhardt, T. Tuschl, RNA 9, 175 (2003).
24. J. G. Doench, P. A. Sharp, Genes Dev. 18, 504 (2004).
25. H. S. Singer, K. Minzer, Brain Dev. 25 (suppl 1), S70 (2003).
26. K. Brose et al., Cell 96, 795 (1999).
27. K. L. Whitford et al., Neuron 33, 47 (2002).
28. Funded by NIH grants NINDS-R01 NS43520, NCRR-K23 RR16118 and an institutional grant from the Howard Hughes Medical Institute (M.W.S.), NINDS-R01 NS0S4273 (N.S.), awards from the Shepherd Foundation and the Lawrence Family (M.W.S.), and a Natural Sciences and Engineering Research Council postgraduate scholarship (K.Y.K.). We thank the additional members of the Yale Tourette Syndrome Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) Consortium: R.A. King, B. Coffey, P. J. Lombroso, E. Kaplan, and P. Como; S. Hannigen, H. Grantz, L. Katsovich, D. Pendley, C. Drazinic, C. Nelson-Williams, J. J. Miller, J. Garoza, N. Lifton, B. Levy, M. Pappy, and L. Golovyan for their assistance; S. Levi Pearl of the Tourette Syndrome Association and the Tourette Syndrome Association International Consortium for Genetics; and the participating patients and families, without whom this work would not have been possible.