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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Acknowledgments
We thank the Cytogenetics and Microscopy Core (NHGRI) for performing the FISH analyses, the NIH Intramural Sequencing Center (NISC) for sequencing the cosmid clone, and Shih-Queen Lee-Lin for assistance with tissue culture and Northern-blot analyses. We also thank Les Biesecker, Bob Blakesley, Mary Schueler, Tony Antonellis, Elliott Margulies, and Monica Berger for helpful comments about the manuscript. This work was supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Institute of Mental Health, National Institutes of Health.
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Idol, J.R., Addington, A.M., Long, R.T. et al. Sequencing and Analyzing the t(1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder. J Autism Dev Disord 38, 668–677 (2008). https://doi.org/10.1007/s10803-007-0435-8
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DOI: https://doi.org/10.1007/s10803-007-0435-8