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Journal of Autism and Developmental Disorders

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01-04-2008 | Original Paper

Sequencing and Analyzing the t(1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder

Auteurs: Jacquelyn R. Idol, Anjene M. Addington, Robert T. Long, Judith L. Rapoport, Eric D. Green

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2008

Abstract

We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a ∼16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders.

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American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: American Psychiatric Association.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Green, E. D. (2001). Strategies for the systematic sequencing of complex genomes. Nature Review Genetics, 2, 573–583.CrossRef

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.PubMedCrossRef

International Human Genome Sequencing Consortium. (2001). Initial sequencing and analysis of the human genome. Nature, 409, 860–921.CrossRef

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.CrossRef

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.CrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Newschaffer, C. J., Fallin, D., & Lee, N. L. (2002). Heritable and nonheritable risk factors for autism spectrum disorders. Epidemiologic Review, 24, 137–153.CrossRef

Nicolson, R., & Rapoport, J. L. (1999). Childhood-onset schizophrenia: Rare but worth studying. Biological Psychiatry, 46, 1418–1428.PubMedCrossRef

Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2001). Thompson and Thompson genetics in medicine (6th ed.). London: W.B. Saunders Company.

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.PubMed

Rapin, I. (1997). Autism. The New England Journal of Medicine, 337, 97–104.PubMedCrossRef

Rapoport, J. L., Addington, A. M., Frangou, S., & Psych, M. R. (2005) The neurodevelopmental model of schizophrenia: Update 2005. Molecular Psychiatry, 10, 434–449.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

The International Human Genome Mapping Consortium. (2001). A physical map of the human genome. Nature, 409, 934–941.CrossRef

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.

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.CrossRef

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.

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.CrossRef

Titel: Sequencing and Analyzing the t(1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder
Auteurs: Jacquelyn R. Idol
Anjene M. Addington
Robert T. Long
Judith L. Rapoport
Eric D. Green
Publicatiedatum: 01-04-2008
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 4/2008
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-007-0435-8

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