Cited by 325Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

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Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.·2010·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2010.10.004PMC PMC2978962

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Abstract

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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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: Mulle, Jennifer G.
Sanders, Stephan J.
Myers, Scott M.
Adam, Margaret P.
Guy, Lisa
Care, Melanie E.
Morel, Chantal F.
Demmer, Laurie A.
Surti, Urvashi
Aradhya, Swaroop
Gliem, Troy J.
Barber, John C.
Warren, Stephen T.
Ledbetter, David H.
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)
DOI: 10.1016/j.ajhg.2010.10.004
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: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
creativecommons.org/licenses/by/3.0/ (vor, 988 d)
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

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

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