Cited by 804Genomic variations and chromosomal abnormalitiesGenome Rearrangement AlgorithmsGenetics and Neurodevelopmental Disorders

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

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Mefford, Heather C., Sharp, Andrew J., Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K., Crolla, John A., Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F., de Leeuw, Nicole, Reardon, William, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C., Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G., Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V., Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E., Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L., Tobias, Edward S., Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R., Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E., Antonarakis, Stylianos E., Chen, Caifu, Estivill, Xavier, Menten, Björn, Gimelli, Giorgio, Gribble, Susan, Schwartz, Stuart, Sutcliffe, James S., Walsh, Tom, Knight, Samantha J.L., Sebat, Jonathan, Romano, Corrado, Schwartz, Charles E., Veltman, Joris A., de Vries, Bert B.A., Vermeesch, Joris R., Barber, John C.K., Willatt, Lionel, Tassabehji, May, Eichler, Evan E.·2008·New England Journal of Medicine

DOI 10.1056/nejmoa0805384PMC PMC2703742

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Abstract

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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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
DOI: 10.1056/nejmoa0805384
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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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

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