Sequencing and analyzing the t(1;7) reciprocal translocation breakpoints associated with a case of childhood-onset schizophrenia/autistic disorder

Journal of Autism and Developmental Disorders

Volumn 38, Issue 4, 2008, Pages 668-677

  Idol, Jacquelyn R ^a   Addington, Anjene M ^b   Long, Robert T ^b   Rapoport, Judith L ^b   Green, Eric D ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Autism; Cytogenetics; Genetics; Genome analysis; Schizophrenia; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME 7; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME ISOLATION; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 7; DNA FLANKING REGION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; HUMAN CELL; INFANTILE AUTISM; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHIZOPHRENIA; SCHOOL CHILD; SEQUENCE ANALYSIS;

AUTISTIC DISORDER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 7; CLONING, MOLECULAR; COSMIDS; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-BCR; SCHIZOPHRENIA, CHILDHOOD; TRANSLOCATION, GENETIC;

EID: 41049094776     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-007-0435-8     Document Type: Article

References (34)

1. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: American Psychiatric Association.
2. Abeysinghe, S. S., Chuzhanova. N., Krawczak, M., Ball, E. V., & Cooper D. N. (2003). Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination- associated motifs. Human Mutation, 22, 229-244.
3. Auranen, M., Nieminen, T., Majuri, S., Vanhala, R., Peltonen, L., & Jarvela, I. (2000). Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families. Molecular Psychiatry, 5, 320-322.
4. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006). Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The special needs and autism project (SNAP). Lancet, 368, 210-215.
5. Bouffard, G. G., Idol, J. R., Braden, V. V., Iyer, L. M., Cunningham, A. F., Weintraub, L. A., et al. (1997). A physical map of human chromosome 7: An integrated YAC contig map with average STS spacing of 79 kb. Genome Research, 7, 673-692.
6. Chuzhanova, N., Abeysinghe, S. S., Krawczak, M., & Cooper, D. N. (2003). Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Human Mutation, 22, 245-251.
7. Ekelund, J., Hovatta, I., Parker, A., Paunio, T., Varilo, T., Martin, R., et al. (2001). Chromosome 1 loci in Finnish schizophrenia families. Human Molecular Genetics, 10, 1611-1617.
8. Ekelund, J., Lichtermann, D., Hovatta, I., Ellonen, P., Suvisaari, J., Terwilliger, J. D. et al. (2000). Genome-wide scan for schizophrenia in the Finnish population: Evidence for a locus on chromosome 7q22. Human Molecular Genetics, 9, 1049-1057.
9. Footz, T. K, Brinkman-Mills, P., Banting, G. S., Maier, S. A., Riazi, M. A., Bridgland, L., et al. (2001). Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere. Genome Research, 11, 1053-1070.
10. Fujii, Y., Shibata, H., Kikuta, R., Makino, C., Tani, A., Hirata, N., et al. (2003). Positive associations of polymorphisms in the metabotropic glutamate receptor type 3 gene (GRM3) with schizophrenia. Psychiatric Genetics, 13, 71-76.
11. Gordon, C. T., Krasnewich, D., White, B., Lenane, M., & Rapoport, J. L. (1994). Brief report: Translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia. Journal of Autism and Developmental Disorders, 24, 537-545.
12. Green, E. D. (2001). Strategies for the systematic sequencing of complex genomes. Nature Review Genetics, 2, 573-583.
13. Hillier, L. W., Fulton, R. S., Fulton, L. A., Graves, T. A., Pepin, K. H., Wagner-McPherson, C., et al. (2003). The DNA sequence of human chromosome 7. Nature, 424, 157-164.
14. International Human Genome Sequencing Consortium. (2001). Initial sequencing and analysis of the human genome. Nature, 409, 860-921.
15. International Molecular Genetic Study of Autism Consortium. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics, 7, 571-578.
16. International Molecular Genetic Study of Autism Consortium. (2001). A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p. American Journal of Human Genetics, 69, 570-581.
17. Jacobs, P. A., Melville, M., Ratcliffe, S., Keay, A. J., & Syme, J. (1974). A cytogenetic survey of 11,680 newborn infants. Annals of Human Genetics, 37, 359-376.
18. Lopreiato, J. O., & Wulfsberg, E. A. (1992). A complex chromosome rearrangement in a boy with autism. Journal of Developmental and Behavioral Pediatrics, 13, 281-283.
19. Maston, G. A., Evans, S. K., & Green, M. R. (2006). Transcriptional regulatory elements in the human genome. Annual Review of Genomics and Human Genetics, 7, 29-59.
20. McKenna, K., Gordon, C. T., Lenane, M., Kaysen, D., Fahey, K., & Rapoport, J. L. (1994) Looking for childhood-onset schizophrenia: The first 71 cases screened. Journal of the American Academy of Child and Adolescent Psychiatry, 33, 636-644.
21. Newschaffer, C. J., Fallin, D., & Lee, N. L. (2002). Heritable and nonheritable risk factors for autism spectrum disorders. Epidemiologic Review, 24, 137-153.
22. Nicolson, R., & Rapoport, J. L. (1999). Childhood-onset schizophrenia: Rare but worth studying. Biological Psychiatry, 46, 1418-1428.
23. Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2001). Thompson and Thompson genetics in medicine (6th ed.). London: W.B. Saunders Company.
24. Petty, L. K., Ornitz, E. M., Michelman, J. D., & Zimmerman, E. G. (1984). Autistic children who become schizophrenic. Archives of General Psychiatry, 41, 129-135.
25. Rapin, I. (1997). Autism. The New England Journal of Medicine, 337, 97-104.
26. Rapoport, J. L., Addington, A. M., Frangou, S., & Psych, M. R. (2005) The neurodevelopmental model of schizophrenia: Update 2005. Molecular Psychiatry, 10, 434-449.
27. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316, 445-449.
28. Sporn, A. L., Addington, A. M., Gogtay, N., Ordoñez, A. E., Gornick, M., Clasen, L., et al. (2004). Pervasive developmental disorder and childhood-onset schizophrenia: Comorbid disorder or a phenotypic variant of a very early onset illness? Biological Psychiatry, 55, 989-994.
29. Summers, T. J., Thomas, J. W., Lee-Lin, S. Q., Maduro, V. V., Idol, J. R., & Green, E. D. (2001). Comparative physical mapping of targeted regions of the rat genome. Mammalian Genome, 12, 508-512.
30. The International Human Genome Mapping Consortium. (2001). A physical map of the human genome. Nature, 409, 934-941.
31. Vollrath, D. (1999). DNA markers for physical mapping. In: B. Birren, E. D. Green, P. Hieter, S. Klapholz, R. M. Myers, H. Riethman, & J. Roskams (Eds.), Genome analysis: A laboratory manual, mapping genomes (Vol. 4, pp. 187-215). Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press.
32. Vorstman, J. A., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F., & Franke, L. (2006). Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Molecular Psychiatry, 11, 18-28.
33. Wilson, R. K., & Mardis, E. R. (1997). Shotgun sequencing. In: B. Birren, E. D. Green, S. Klapholz, R. M. Myers, & J. Roskams (Eds.), Genome analysis: A laboratory manual, analyzing DNA (Vol. 1, pp. 397-454). Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press.
34. Yan, W. L., Guan, X. Y., Green, E. D., Nicolson, R., Yap, T. K., Zhang, J., et al. (2000). Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21. American Journal of the Medical Genetics, 96, 749-753.