The DOI matches its Crossref record; 73 of the 74 references it cites were found in a registry or an index.
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Open accessAbstract
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large follow-up sample, the same deletion was identified in 2/1,182 ASD/neurocognitive impairment and in 4/6,340 schizophrenia patients, but in 0/47,929 controls (corrected p = 7.37 × 10⁻⁵). These data demonstrate that deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia and show that one or more of the 15 genes in the deleted interval is dosage sensitive and essential for normal brain development and function. In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.
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In the citing paper
“2 of the remaining 3 loci, 2p15 and 17q12, have been previously implicated in ASD (Liang et al., 2009; Moreno-De-Luca et al., 2010)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Moreno-De-Luca et al., 2010
In the citing paper
“several individual CNV loci have been strongly implicated as risk factors for schizophrenia with high degrees of statistical confidence. These include deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3, 22q11.2 and duplications at VIPR2, 16p11.2, 16p13.1 and 15q11-q13.2, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [5]
In the citing paper
“This observation is consistent with recent reports that similar copy number variants (CNVs) are found across many genomic loci in both ASD and schizophrenia (Cook and Scherer, 2008; Gejman et al., 2011; Moreno-De-Luca et al., 2010; Sanders et al., 2011).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Moreno-De-Luca et al., 2010
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Metadata
- Authors
- Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., Guy, L., Care, M. E., Morel, C. F., Boni, C., Salbert, B. A., Chandrareddy, A., Demmer, L. A., Chow, E. W. C., Surti, U., Aradhya, S., Pickering, D. L., Golden, D. M., Sanger, W. G., Aston, E., Brothman, A. R., Gliem, T. J., Thorland, E. C., Ackley, T., Iyer, R., Huang, S., Barber, J. C., Crolla, J. A., Warren, S. T., Martin, C. L., & Ledbetter, D. H.
- Affiliations
- Emory University (US)
- Yale University (US)
- Geisinger Medical Center (US)
- Children's Hospital of Wisconsin (US)
- Mount Sinai Hospital (CA)
- Tufts Medical Center (US)
- Centre for Addiction and Mental Health (CA)
- University of Pittsburgh (US)
- University of Nebraska Medical Center (US)
- University of Utah (US)
- Mayo Clinic (US)
- Michigan Medicine (US)
- Wessex Regional Genetics Laboratory (GB)
- Corresponding author
- Ledbetter, David H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-11
- Volume
- 87
- Issue
- 5
- Pages
- 618-630
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2978962
- OpenAlex
- W2152079029
- Semantic Scholar
- 5234b4e543c939b40fbcc2753b015fd9bb926dde
- Cited by
- 324
- References
- 74
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 24 · 2023: 13 · 2022: 17 · 2021: 12 · 2020: 17 · 2019: 19 · 2018: 13 · 2017: 13 · 2016: 20 · 2015: 23 · 2014: 30 · 2013: 41 · 2012: 35
- FWCI
- 19.23
- Type
- journal article
- Language
- en
- Update notices
- erratum (2011-01-07)
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Funders
- Simons Foundation Autism Research Initiative
- National Institute of Mental Health (MH080583, MH080129, F32MH080583, R01MH071425, R01MH080129, MH081754, R01MH081754, MH071425, R01MH074090)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD064525, RC2HD064525)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- copy number variation, autism spectrum disorder, schizophrenia, HNF1B, contiguous gene syndrome, neurodevelopmental disorders, macrocephaly, renal anomalies, facial dysmorphism, neurocognitive impairment, brain development, genetic risk
- MeSH terms
- Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 17, Female, Humans, Male, Phenotype, Schizophrenia, Sequence Deletion, Facies, DNA Copy Number Variations
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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