CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

Genomics

Volumn 82, Issue 1, 2003, Pages 1-9

  Verkerk, Annemieke J M H ^a   Mathews, Carol A ^b   Joosse, Marijke ^a   Eussen, Bert H J ^a   Heutink, Peter ^a   Oostra, Ben A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Chromosome 2; Chromosome 7; Contactin associated protein; Gilles de la Tourette syndrome; Node of Ranvier; Potassium channel; Translocation breakpoint

Indexed keywords

CONTACTIN ASSOCIATED PROTEIN 2; MEMBRANE PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME INSERTION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CYTOGENETICS; FEMALE; GENE DISRUPTION; GENE EXPRESSION; GENE LOCATION; GENETIC CODE; GILLES DE LA TOURETTE SYNDROME; HUMAN; KARYOTYPE 46,XY; MALE; NERVE FIBER; NUCLEOTIDE SEQUENCE; OBSESSIVE COMPULSIVE DISORDER; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RANVIER NODE;

INSERTION SEQUENCES;

EID: 0038278610     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0888-7543(03)00097-1     Document Type: Article

References (43)

1. Jankovic J. Tourette's syndrome. N. Engl. J. Med. 345:2001;1184-1192.
2. Leckman J.F., Cohen D.J., Goetz C.G., Jankovic J. Tourette syndrome pieces of the puzzle . Adv. Neurol. 85:2001;369-390.
3. Leckman J.F., et al. Course of tic severity in Tourette syndrome the first two decades . Pediatrics. 102:1998;14-19.
4. American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Washington D.C., 1994.
5. Miguel E.C., do Rosario-Campos M.C., Shavitt R.G., Hounie A.G., Mercadante M.T. The tic-related obsessive-compulsive disorder phenotype and treatment implications. Adv. Neurol. 85:2001;43-55.
6. Pauls D.L., Towbin K.E., Leckman J.F., Zahner G.E., Cohen D.J. Gilles de la Tourette's syndrome and obsessive-compulsive disorder. Evidence supporting a genetic relationship. Arch. Gen. Psychiatry. 43:1986;1180-1182.
7. Grados M.A., et al. The familial phenotype of obsessive-compulsive disorder in relation to tic disorders the Hopkins OCD family study . Biol. Psychiatry. 50:2001;559-565.
8. Cath D.C., et al. Gilles de la Tourette's syndrome with and without obsessive-compulsive disorder compared with obsessive-compulsive disorder without tics Which symptoms discriminate? J. Nerv. Ment. Dis. 189:2001;219-228.
9. Eapen V., Pauls D.L., Robertson M.M. Evidence for autosomal dominant transmission in Tourette's syndrome. United Kingdom Cohort Study. Br. J. Psychiatry. 162:1993;593-596.
10. Van de Wetering B.J., Heutink P. The genetics of the Gilles de la Tourette syndrome a review . J. Lab. Clin. Med. 121:1993;638-645.
11. Pauls D.L. Update on the genetics of Tourette syndrome. Adv. Neurol. 85:2001;281-293.
12. Heutink P., et al. Linkage studies on Gilles de la Tourette syndrome what is the strategy of choice? Am. J. Hum. Genet. 57:1995;465-473.
13. Barr C.L., et al. Genome scan for linkage to Gilles de la Tourette syndrome. Am. J. Med. Genet. 88:1999;437-445.
14. A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. Am. J. Hum. Genet. 65:1999;1428-1436.
15. Merette C., et al. Significant linkage for Tourette syndrome in a large French Canadian family. Am. J. Hum. Genet. 67:2000;1008-1013.
16. Simonic I., et al. Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. Am. J. Med. Genet. 105:2001;163-167.
17. Heutink P., et al. No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. J. Med. Genet. 27:1990;433-436.
18. Pakstis A.J., et al. Progress in the search for genetic linkage with Tourette syndrome an exclusion map covering more than 50% of the autosomal genome . Am. J. Hum. Genet. 48:1991;281-294.
19. Matsumoto N., et al. Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. Eur. J. Hum. Genet. 8:2000;875-883.
20. Petek E., et al. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am. J. Hum. Genet. 68:2001;848-858.
21. Taylor L.D., et al. 9p monosomy in a patient with Gilles de la Tourette's syndrome. Neurology. 41:1991;1513-1515.
22. Boghosian-Sell L., Comings D.E., Overhauser J. Tourette syndrome in a pedigree with a 7;18 translocation identification of a YAC spanning the translocation breakpoint at 18q22.3 . Am. J. Hum. Genet. 59:1996;999-1005.
23. Kroisel P.M., et al. Candidate region for Gilles de la Tourette syndrome at 7q31. Am. J. Med. Genet. 101:2001;259-261.
24. Poliak S., et al. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron. 24:1999;1037-1047.
25. Nakabayashi K., Scherer S.W. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics. 73:2001;108-112.
26. Rasband M.N., Shrager P. Ion channel sequestration in central nervous system axons. J. Physiol. 525:2000;63-73.
27. Robertson M.M. Normal chromosomal findings in Gilles de la Tourette syndrome. Psychiatr. Genet. 3:1993;95-99.
28. Aviram-Goldring A., et al. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am. J. Med. Genet. 91:2000;74-82.
29. Nam S.Y., Maeda S., Fujisawa M., Kurohmaru M., Hayashi Y. Expression pattern of mitochondrial capsule selenoprotein mRNA in the hamster testis. J. Vet. Med. Sci. 60:1998;1175-1179.
30. Achard P., Job D., Mache R. A nuclear transcription factor related to plastid ribosome biogenesis is synthesised early during germination and priming. FEBS Lett. 518:2002;48-52.
31. Peles E., et al. Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. EMBO J. 16:1997;978-988.
32. Bellen H.J., Lu Y., Beckstead R., Bhat M.A. Neurexin IV, caspr and paranodin - novel members of the neurexin family encounters of axons and glia . Trends Neurosci. 21:1998;444-449.
33. Rios J.C., et al. Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination. J. Neurosci. 20:2000;8354-8364.
34. Pedraza L., Huang J.K., Colman D.R. Organizing principles of the axoglial apparatus. Neuron. 30:2001;335-344.
35. Bhat M.A., et al. Discs Lost, a novel multi-PDZ domain protein, establishes and maintains epithelial polarity. Cell. 96:1999;833-845.
36. Mink J.W. Basal ganglia dysfunction in Tourette's syndrome a new hypothesis . Pediatr. Neurol. 25:2001;190-198.
37. Mink J.W. Neurobiology of basal ganglia circuits in Tourette syndrome faulty inhibition of unwanted motor patterns? Adv. Neurol. 85:2001;113-122.
38. Wang J.W., Humphreys J.M., Phillips J.P., Hilliker A.J., Wu C.F. A novel leg-shaking Drosophila mutant defective in a voltage-gated K(+)current and hypersensitive to reactive oxygen species. J. Neurosci. 20:2000;5958-5964.
39. Browne D.L., et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 8:1994;136-140.
40. Smart S.L., et al. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron. 20:1998;809-819.
41. Zhou L., Zhang C.L., Messing A., Chiu S.Y. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice role of potassium channels under the myelin sheath in young nerves . J. Neurosci. 18:1998;7200-7215.
42. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. 2000;Text Revision, Washington D.C.
43. Pinkel D., Straume T., Gray J.W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 83:1986;2934-2938.