Cited by 399Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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Korbel, Jan O., Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C., Lange, Ken, Sobel, Eric M., Barlow, Gillian M., Aylsworth, Arthur S., Carpenter, Nancy J., Clark, Robin Dawn, Cohen, Monika Y., Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O., Lott, Ira T., McGillivray, Barbara C., Moeschler, John B., Pettenati, Mark J., Pueschel, Siegfried M., Rao, Kathleen W., Shaffer, Lisa G., Shohat, Mordechai, Van Riper, Alexander J., Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B., Snyder, Michael, Korenberg, Julie R.·2009·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0813248106PMC PMC2709665

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Abstract

Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21. By using state-of-the-art genomics technologies we mapped segmental trisomies at exon-level resolution and identified discrete regions of 1.8–16.3 Mb likely to be involved in the development of 8 DS phenotypes, 4 of which are congenital malformations, including acute megakaryocytic leukemia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anus, severe mental retardation, DS-Alzheimer Disease, and DS-specific congenital heart disease (DSCHD). Our DS-phenotypic maps located DSCHD to a <2-Mb interval. Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS—i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A , or APP , in causing several severe DS phenotypes. Our study demonstrates the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.

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Author response: Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476.2.sa0
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., S. R., Rajesh, P., Raja, A., & Padmavathy, K. (2026) · IP International Journal of Medical Paediatrics and Oncology · doi:10.18231/j.ijmpo.19559.1789727036
Critical regions for human brain development include SON and ITSN1 defined by a panel with chromosome 21 interstitial deletions.Preprint
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Self-citation

Authors: Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., Sobel, E. M., Barlow, G. M., Aylsworth, A. S., Carpenter, N. J., Clark, R. D., Cohen, M. Y., Doran, E., Falik-Zaccai, T., Lewin, S. O., Lott, I. T., McGillivray, B. C., Moeschler, J. B., Pettenati, M. J., Pueschel, S. M., Rao, K. W., Shaffer, L. G., Shohat, M., Van Riper, A. J., Warburton, D., Weissman, S., Gerstein, M. B., Snyder, M., & Korenberg, J. R.
Affiliations: European Bioinformatics Institute (GB)
Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048;
Yale University (US)
Cedars-Sinai Medical Center (US)
University of California, Los Angeles (US)
University of North Carolina at Chapel Hill (US)
Center for Genetic Testing, Tulsa, OK 74136;
Loma Linda University Medical Center (US)
Department of Genetics, Kinderzentrum Munich, 81377 Munich, Germany;
University of California, Irvine Medical Center (US)
Institute of Human Genetics, Western Galilee Hospital, Nahariya 22100, Israel;
University of Utah (US)
University of British Columbia (CA)
Dartmouth–Hitchcock Medical Center (US)
Wake Forest University Health Sciences (US)
Rhode Island Hospital (US)
Signature Genomic Laboratories, Spokane, WA 99207;
Tel Aviv University (IL)
Genetics Department, Kaiser Permanente Medical Offices, Sacramento, CA 95815;
Columbia University (US)
ORCID: Korbel, Jan O.
Urban, Alexander Eckehart
Kasowski, Maya
Dai, Li
Gao, Michael C.
Sobel, Eric M.
Barlow, Gillian M.
Clark, Robin Dawn
Lott, Ira T.
McGillivray, Barbara C.
Shaffer, Lisa G.
Gerstein, Mark B.
Snyder, Michael
Korenberg, Julie R.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2009-07-21
Volume: 106
Issue: 29
Pages: 12031-12036
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.0813248106
PMC: PMC2709665
OpenAlex: W1964683842
Cited by: 399
References: 47
Citations by year: 2026: 11 · 2025: 16 · 2024: 16 · 2023: 20 · 2022: 22 · 2021: 27 · 2020: 24 · 2019: 21 · 2018: 11 · 2017: 14 · 2016: 26 · 2015: 28 · 2014: 28 · 2013: 30 · 2012: 38
FWCI: 34.96
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
UNC Libraries
Funders: U.S. Department of Energy
European Commission
National Institutes of Health
National Institute of General Medical Sciences (T32GM007205)
Topics: Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Down syndrome, chromosome 21, gene mapping, copy number variation, congenital heart disease, Hirschsprung disease, duodenal stenosis, acute megakaryoblastic leukemia, transient myeloproliferative disorder, intellectual disability, Alzheimer's disease, DSCR1, DYRK1A, APP, etiology
MeSH terms: Chromosome Mapping, Chromosomes, Human, Pair 21, Down Syndrome, Humans, Infant, Phenotype, Trisomy, Meta-Analysis as Topic

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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