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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Open accessAbstract
Purpose : Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes associated with such copy number variants in individuals with unexplained physical and intellectual disabilities encountered in a diagnostic setting.Methods : We analyzed 38,779 individuals referred to our diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. We also analyzed the indications for study for individuals with copy number variants overlapping those found in six individuals referred for schizophrenia.Results : After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), we identified 1113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the six individuals referred to our laboratory for schizophrenia. Of these, 1035 had a copy number variant of one of six recurrent loci: 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11, and 22q11.2. The indications for study for these 1150 individuals were diverse and included developmental delay, intellectual disability, autism spectrum, and multiple congenital anomalies.Conclusion : The results from our study, the largest genotype-first analysis of schizophrenia susceptibility loci to date, suggest that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
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“Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [26]
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“Schizophrenia (SZ) appears to be associated more strongly with 16p11.2 duplications [9, 25–27].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [26]
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“Developmental delays and craniofacial anomalies associated with a loss of genetic material at the NRG3 locus, accompanied by a gain of material at the DLGAP1 site, have also been reported [97]”
From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [97]
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Metadata
- Authors
- Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., & Shaffer, L. G.
- Corresponding author
- Shaffer, Lisa G.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 13
- Issue
- 10
- Pages
- 868-880
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2054476466
- Cited by
- 115
- References
- 52
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 3 · 2023: 8 · 2022: 2 · 2021: 12 · 2020: 11 · 2019: 5 · 2018: 3 · 2017: 13 · 2016: 7 · 2015: 5 · 2014: 9 · 2013: 19 · 2012: 10
- FWCI
- 7.58
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, schizophrenia, 1q21.1, 15q11.2, 15q13.3, 16p11.2, 22q11.2, developmental delay, intellectual disability, autism spectrum disorder, congenital malformations, pleiotropy, neurodevelopmental disorders, speech delay, behavioral problems
- MeSH terms
- Adolescent, Behavioral Symptoms, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Female, Humans, Infant, Infant, Newborn, Language Development Disorders, Male, Schizophrenia, Genetic Predisposition to Disease, Heredity, Comparative Genomic Hybridization, Young Adult, Genetic Loci, Genetic Association Studies, DNA Copy Number Variations, Chromosome Duplication
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