The DOI matches its Crossref record; 89 of the 89 references it cites were found in a registry or an index.
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Open accessAbstract
While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity in platforms used for discovery. Using a customized microarray enriched for genomic hotspots, we assayed for large CNVs among 1,227 individuals with various neurological deficits including dyslexia (376), sporadic autism (350), and intellectual disability (ID) (501), as well as 337 controls. We show that the frequency of large CNVs (>1 Mbp) is significantly greater for ID-associated phenotypes compared to autism (p = 9.58 × 10(-11), odds ratio = 4.59), dyslexia (p = 3.81 × 10(-18), odds ratio = 14.45), or controls (p = 2.75 × 10(-17), odds ratio = 13.71). There is a striking difference in the frequency of rare CNVs (>50 kbp) in autism (10%, p = 2.4 × 10(-6), odds ratio = 6) or ID (16%, p = 3.55 × 10(-12), odds ratio = 10) compared to dyslexia (2%) with essentially no difference in large CNV burden among dyslexia patients compared to controls. Rare CNVs were more likely to arise de novo (64%) in ID when compared to autism (40%) or dyslexia (0%). We observed a significantly increased large CNV burden in individuals with ID and multiple congenital anomalies (MCA) compared to ID alone (p = 0.001, odds ratio = 2.54). Our data suggest that large CNV burden positively correlates with the severity of childhood disability: ID with MCA being most severely affected and dyslexics being indistinguishable from controls. When autism without ID was considered separately, the increase in CNV burden was modest compared to controls (p = 0.07, odds ratio = 2.33).
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Cites
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“A comparison of rare de novo CNV rates for autism shows that our estimates (4%, 14/336) fall within a range of 4–10% reported previously by other large-scale, high-density array studies [4,61,62,63].”
BackgroundResultDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
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Structural Variation of Chromosomes in Autism Spectrum Disorder
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“Recent studies have implicated large, rare CNVs in a range of neurodevelopmental disorders including intellectual disability (ID) [1,2], autism [3,4], schizophrenia [5,6], bipolar disorder [7,8], epilepsy [9,10], and attention deficit hyperactivity disorder (ADHD) [11,12].”
BackgroundRare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
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Self-citationLarge recurrent microdeletions associated with schizophrenia.
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Cited by
An integrated map of structural variation in 2,504 human genomes
Sudmant, P. H., Rausch, T., Gardner, E. J., Handsaker, R. E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. (2015) · Nature · doi:10.1038/nature15394 · Cited by 2,354
Self-citationSchizophrenia: an integrated sociodevelopmental-cognitive model
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Autism risk factors: genes, environment, and gene-environment interactions
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Phenotypic impact of genomic structural variation: insights from and for human disease
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Genetic architecture in autism spectrum disorder
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Metadata
- Authors
- Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., Warren, S. T., Moreno, C. S., Fichera, M., Romano, C., Raskind, W. H., & Eichler, E. E.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-11-10
- Volume
- 7
- Issue
- 11
- Pages
- e1002334
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2145709699
- Cited by
- 324
- References
- 89
- FWCI
- 18.45
- Type
- journal article
- Language
- en
- Open access
- gold
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- Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., Warren, S. T., Moreno, C. S., Fichera, M., Romano, C., Raskind, W. H., & Eichler, E. E. (2011). Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1002334
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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