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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
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BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. RESULTS: We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10(-7)). We found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild-to-moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The reciprocal duplication was enriched in nine children with mental retardation or autism spectrum disorder and other variable features (P=0.02). We identified three deletions and three duplications of the 1q21.1 region in an independent sample of 788 patients with mental retardation and congenital anomalies. CONCLUSIONS: We have identified recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease. Clinical diagnosis in patients with these lesions may be most readily achieved on the basis of genotype rather than phenotype.
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“The clinical phenotypes associated with a single allele are diverse and include pediatric neurodevelopmental disorders and adult psychiatric conditions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Mefford et al., 2008
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Cites
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Self-citationDetection 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
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
Self-citationBurnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Self-citationLarge recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402
Self-citationMapping and sequencing of structural variation from eight human genomes
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
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Research works printed but not linked: 1
- Vanita V, 2008, Mol Vis, 14, 323
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Self-citationMiller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
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Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
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
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Self-citationSensitive and accurate detection of copy number variants using read depth of coveragePreprint
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Self-citationAnalysis of copy number variations at 15 schizophrenia-associated loci
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Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437
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O’Donovan, M. C., Craddock, N. J., & Owen, M. J. (2009) · Human Genetics · doi:10.1007/s00439-009-0703-0 · Cited by 216
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Rosenfeld, J. A., Ballif, B. C., Torchia, B. S., Sahoo, T., Ravnan, J. B., Schultz, R., Lamb, A., Bejjani, B. A., & Shaffer, L. G. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f0c5f3 · Cited by 169
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Metadata
- Authors
- Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M. H. F., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Giudice, M. L., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Räber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M.-C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J. L., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B. A., Vermeesch, J. R., Barber, J. C. K., Willatt, L., Tassabehji, M., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- University of Geneva (CH)
- Ghent University Hospital (BE)
- Salisbury NHS Foundation Trust (GB)
- Wessex Regional Genetics Laboratory (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- KU Leuven (BE)
- Radboud University Nijmegen (NL)
- Children's Health Ireland at Crumlin (IE)
- Amsterdam UMC Location University of Amsterdam (NL)
- Great Ormond Street Hospital (GB)
- St Mary's Hospital (GB)
- Addenbrooke's Hospital (GB)
- Oasi Maria SS (IT)
- University Hospital of Bern (CH)
- Istituto Giannina Gaslini (IT)
- Royal Hospital for Children (GB)
- University Medical Center Utrecht (NL)
- St. James's Hospital (IE)
- Centre for Human Genetics (GB)
- Greenwood Genetic Center (US)
- Universitat Pompeu Fabra (ES)
- Wellcome Sanger Institute (GB)
- University of Chicago (US)
- Vanderbilt University (US)
- Cold Spring Harbor Laboratory (US)
- University of Manchester (GB)
- Howard Hughes Medical Institute (US)
- ORCID
- Mefford, Heather C.
- Sharp, Andrew J.
- Jiang, Zhaoshi
- Baralle, Diana
- Collins, Amanda
- Mercer, Catherine
- Norga, Koen
- Reardon, William
- Hennekam, Raoul C.
- Male, Alison
- Mehta, Sarju G.
- Woods, C. Geoffrey
- Firth, Helen V.
- Fichera, Marco
- Giudice, Mariangela Lo
- Conrad, Bernard
- Schwerzmann, Markus
- Räber, Lorenz
- Gallati, Sabina
- Striano, Pasquale
- Coppola, Antonietta
- Tobias, Edward S.
- Verloo, Patrick
- Goossens, Linde
- Mortier, Geert
- Speleman, Frank
- Nelen, Marcel R.
- Hochstenbach, Ron
- Poot, Martin
- Gallagher, Louise
- Gill, Michael
- McClellan, Jon
- King, Mary-Claire
- Skinner, Cindy
- Stevenson, Roger E.
- Antonarakis, Stylianos E.
- Estivill, Xavier
- Menten, Björn
- Schwartz, Stuart
- Sutcliffe, James S.
- Walsh, Tom
- Knight, Samantha J.L.
- Sebat, Jonathan
- Romano, Corrado
- Schwartz, Charles E.
- Veltman, Joris A.
- Vermeesch, Joris R.
- Barber, John C.K.
- Tassabehji, May
- Eichler, Evan E.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-10-16
- Volume
- 359
- Issue
- 16
- Pages
- 1685-1699
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2703742
- OpenAlex
- W2098380802
- Cited by
- 804
- References
- 45
- Citations by year
- 2026: 16 · 2025: 17 · 2024: 16 · 2023: 17 · 2022: 16 · 2021: 32 · 2020: 25 · 2019: 28 · 2018: 60 · 2017: 27 · 2016: 24 · 2015: 46 · 2014: 39 · 2013: 59 · 2012: 68
- FWCI
- 59.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- DIAL (Catholic University of Leuven) (submittedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Howard Hughes Medical Institute
- Wellcome Trust (061183)
- National Institute for Health and Care Research
- National Institutes of Health
- National Institute on Aging
- National Institute of General Medical Sciences (T32GM007266)
- National Institute of Neurological Disorders and Stroke
- 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
- microdeletion, microduplication, intellectual disability, autism spectrum disorder, congenital malformations, microcephaly, cardiac anomalies, cataract, genotype-phenotype correlation, de novo deletion, mode of inheritance
- MeSH terms
- Congenital Abnormalities, Autistic Disorder, Cataract, Child, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Heart Defects, Congenital, Humans, Male, Intellectual Disability, Microcephaly, Phenotype, Recombination, Genetic, Genetic Variation, Gene Rearrangement, Gene Duplication
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