Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Open accessAbstract
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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Clinical phenotypes associated with rearrangements at 1q21.1 and 16p11.2 are diverse and include pediatric neurodevelopmental disorders and adult psychiatric conditions.
“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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Inherited and de novo genetic risk for autism impacts shared networks
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Self-citationMicrodeletions of 3q29 confer high risk for schizophrenia
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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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