Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Abstract
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals. Using oligonucleotide arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region containing six genes that were deleted in all four individuals. We mapped the breakpoints of this deletion and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.
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Large de novo copy number variants are significantly enriched among ASD/ID probands compared with unaffected siblings or controls.
“By contrast, targeted and genome-wide microarray studies revealed that large de novo copy number variants (CNVs) were significantly enriched among probands when compared to unaffected siblings and/or controls [8–14]”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [14]
Cites
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557 · see citing works
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355 · see citing works
Self-citationFine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 991 · see citing works
Self-citationSegmental Duplications and Copy-Number Variation in the Human Genome
Sharp, A. J., Locke, D. P., McGrath, S. D., Cheng, Z., Bailey, J. A., Vallente, R. U., Pertz, L. M., Clark, R. A., Schwartz, S., Segraves, R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431652 · Cited by 973 · see citing works
Self-citationGenome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 915 · see citing works
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908 · see citing works
A common inversion under selection in Europeans
Stefánsson, H., Helgason, A., Þorleifsson, G., Steinthórsdóttir, V., Másson, G., Barnard, J., Baker, A., Jónasdóttir, Á., Ingason, A., Gudnadottir, V. G., et al. (2005) · Nature Genetics · doi:10.1038/ng1508 · Cited by 830 · see citing works
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605 · see citing works
A common molecular basis for rearrangement disorders on chromosome 22q11
Edelmann, L. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1157 · Cited by 452 · see citing works
Subtle chromosomal rearrangements in children with unexplained mental retardation
Knight, S. J. L., Regan, R., Nicod, A., Horsley, S. W., Kearney, L., Homfray, T., Winter, R. M., Bolton, P., & Jonathan Flint, C. (1999) · The Lancet · doi:10.1016/s0140-6736(99)03070-6 · Cited by 451 · see citing works
Self-citationPotocki, L., Chen, K.-S., Park, S. S., Osterholm, D. E., Withers, M. A., Kimonis, V. E., Summers, A. M., Meschino, W. S., Anyane‐Yeboa, K., Kashork, C. D., et al. (2000) · Nature Genetics · doi:10.1038/71743 · Cited by 420 · see citing works
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics · doi:10.1038/ng753 · Cited by 344 · see citing works
Integration of cytogenetic landmarks into the draft sequence of the human genome
Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U.-J., Kuo, W.-L., Olivier, M., et al. (2001) · Nature · doi:10.1038/35057192 · Cited by 317 · see citing works
Self-citationLocke, D. P., Sharp, A. J., McCarroll, S. A., McGrath, S. D., Newman, T. L., Cheng, Z., Schwartz, S., Albertson, D. G., Pinkel, D., Altshuler, D., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505653 · Cited by 317 · see citing works
Self-citationHeilstedt, H. A., Ballif, B. C., Howard, L. A., Lewis, R. A., Stal, S., Kashork, C. D., Bacino, C. A., Shapira, S. K., & Shaffer, L. G. (2003) · The American Journal of Human Genetics · doi:10.1086/375179 · Cited by 296 · see citing works
Amos-Landgraf, J. M., Ji, Y., Gottlieb, W., Depinet, T. W., Wandstrat, A. E., Cassidy, S. B., Driscoll, D. J., Rogan, P. K., Schwartz, S., & Nicholls, R. D. (1999) · The American Journal of Human Genetics · doi:10.1086/302510 · Cited by 278 · see citing works
Self-citationSelzer, R. R., Richmond, T., Pofahl, N. J., Green, R. D., Eis, P. S., Nair, P., Brothman, A. R., & Stallings, R. L. (2005) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20243 · Cited by 265 · see citing works
Self-citationComplex SNP-related sequence variation in segmental genome duplications
Fredman, D., White, S. J., Potter, S., Eichler, E. E., den Dunnen, J. T., & Brookes, A. J. (2004) · Nature Genetics · doi:10.1038/ng1401 · Cited by 232 · see citing works
Self-citationHughes-Benzie, R., Pilia, G., Xuan, J. Y., Hunter, A. G. W., Chen, E., Golabi, M., Hurst, J. A., Kobori, J. A., Marymee, K., Pagon, R. A., et al. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19961211)66:2 · Cited by 133 · see citing works
Self-citationGimelli, G. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg101 · Cited by 131 · see citing works
Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., & Matsumoto, N. (2004) · The American Journal of Human Genetics · doi:10.1086/426950 · Cited by 129 · see citing works
The tau H2 haplotype is almost exclusively Caucasian in origin
Evans, E. W., Fung, H., Steele, J. C., Eerola, J., Tienari, P. J., Pittman, A. M., de Silva, R., Myers, A., Vrièze, F. W., Singleton, A., et al. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.05.119 · Cited by 117 · see citing works
Kurotaki, N., Stankiewicz, P., Wakui, K., Niikawa, N., & Lupski, J. R. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi050 · Cited by 70 · see citing works
Genetic Variation Affects de Novo Translocation Frequency
Kato, T., Inagaki, H., Yamada, K., Kogo, H., Ohye, T., Kowa, H., Nagaoka, K., Taniguchi, M., Emanuel, B. S., & Kurahashi, H. (2006) · Science · doi:10.1126/science.1121452 · Cited by 65 · see citing works
Zhou, Y., & Mishra, B. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407957102 · Cited by 49 · see citing works
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion
Liehr, T., Rautenstrauß, B., Grehl, H., et al. (1996) · Human Genetics · doi:10.1007/s004390050154 · Cited by 47 · see citing works
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Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works
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Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
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Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
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Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
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Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Self-citationMefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
Self-citationA de novo convergence of autism genetics and molecular neuroscience
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Self-citationMiller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works
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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
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Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Göhring, I., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/515583 · Cited by 317 · see citing works
Self-citationBijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works
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Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260 · see citing works
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Self-citationMefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research · doi:10.1101/gr.094987.109 · Cited by 132 · see citing works
Self-citationTau filaments in neurodegenerative diseases
Goedert, M. (2018) · FEBS Letters · doi:10.1002/1873-3468.13108 · Cited by 127 · see citing works
Rodríguez-Santiago, B., Brunet, A., Sobrino, B., Serra-Juhé, C., Flores, R., Armengol, L., Vilella, E., Gabau, E., Guitart, M., Guillamat, R., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.53 · Cited by 88 · see citing works
Makoff, A. J., & Flomen, R. H. (2007) · Genome biology · doi:10.1186/gb-2007-8-6-r114 · Cited by 87 · see citing works
Vandewalle, J., Van Esch, H., Govaerts, K., Verbeeck, J., Zweier, C., Madrigal, I., Mila, M., Pijkels, E., Fernandez, I., Kohlhase, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.019 · Cited by 86 · see citing works
Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67 · see citing works
El-Hattab, A. W., Fang, P., Jin, W., Hughes, J. R., Gibson, J. B., Patel, G. S., Grange, D. K., Manwaring, L. P., Patel, A., Stankiewicz, P., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100125 · Cited by 59 · see citing works
Gaps and complex structurally variant loci in phased genome assemblies
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Schizophrenia: Genome, Interrupted
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- Authors
- Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., Fitzpatrick, C. A., Segraves, R., Richmond, T. A., Guiver, C., Albertson, D. G., Pinkel, D., Eis, P. S., Schwartz, S., Knight, S. J. L., & Eichler, E. E.
- Affiliations
- Howard Hughes Medical Institute (US)
- F. Hoffmann-La Roche AG (CH)
- Centre for Human Genetics (GB)
- National Health Service (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- University of Chicago (US)
- University of California, San Francisco (US)
- Corresponding author
- Eichler, Evan E
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-08-13
- Volume
- 38
- Issue
- 9
- Pages
- 1038-1042
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2110793364
- Cited by
- 658
- References
- 28
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 10 · 2023: 10 · 2022: 7 · 2021: 24 · 2020: 12 · 2019: 13 · 2018: 17 · 2017: 21 · 2016: 12 · 2015: 29 · 2014: 79 · 2013: 32 · 2012: 43
- FWCI
- 40.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043569, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- genomic disorders, segmental duplication, microdeletion, 1q21.1, 17q12, breakpoint mapping, copy number variation, intellectual disability, de novo deletion, chromosomal instability
- MeSH terms
- Chromosome Deletion, Chromosomes, Human, Pair 17, Heterozygote, Humans, Intellectual Disability, Mosaicism, Nucleic Acid Hybridization, Polymorphism, Genetic, Gene Rearrangement, Genome, Human, In Situ Hybridization, Fluorescence, Gene Dosage, Chromosome Breakage, Physical Chromosome Mapping, Oligonucleotide Array Sequence Analysis, Gene Duplication, Chromosomes, Artificial, Bacterial
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