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Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders
Open accessAbstract
Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear. We tested the burden and the possible sex-biased effect of CNVs at 16p13.11 in a sample of 10,397 individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH); cases were compared with 11,277 controls. In order to identify candidate phenotype-associated genes, we performed an interval-based analysis and investigated the presence of ohnologs at 16p13.11; finally, we searched the DECIPHER database for previously identified 16p13.11 copy number variants. In the clinical referral series, we identified 46 cases with CNVs of variable size at 16p13.11, including 28 duplications and 18 deletions. Patients were referred for various phenotypes, including developmental delay, autism, speech delay, learning difficulties, behavioural problems, epilepsy, microcephaly and physical dysmorphisms. CNVs at 16p13.11 were also present in 17 controls. Association analysis revealed an excess of CNVs in cases compared with controls (OR = 2.59; p = 0.0005), and a sex-biased effect, with a significant enrichment of CNVs only in the male subgroup of cases (OR = 5.62; p = 0.0002), but not in females (OR = 1.19, p = 0.673). The same pattern of results was also observed in the DECIPHER sample. Interval-based analysis showed a significant enrichment of case CNVs containing interval II (OR = 2.59; p = 0.0005), located in the 0.83 Mb genomic region between 15.49-16.32 Mb, and encompassing the four ohnologs NDE1, MYH11, ABCC1 and ABCC6. Our data confirm that duplications and deletions at 16p13.11 represent incompletely penetrant pathogenic mutations that predispose to a range of neurodevelopmental disorders, and suggest a sex-limited effect on the penetrance of the pathological phenotypes at the 16p13.11 locus.
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“This same phenomenon has recently been shown for SHANK157 and the 16p13.11 CNV.58”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [58]
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Metadata
- Authors
- Tropeano, M., Ahn, J. W., Dobson, R. J. B., Breen, G., Rucker, J., Dixit, A., Pal, D. K., McGuffin, P., Farmer, A., White, P. S., Andrieux, J., Vassos, E., Ogilvie, C. M., Curran, S., & Collier, D. A.
- Affiliations
- King's College London (GB)
- Guy's Hospital (GB)
- Children's Hospital of Philadelphia (US)
- Centre Hospitalier Universitaire de Lille (FR)
- Corresponding author
- Tropeano, Maria
- Collier, David A
- ORCID
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-04-18
- Volume
- 8
- Issue
- 4
- Pages
- e61365
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3630198
- OpenAlex
- W2054217796
- Cited by
- 154
- References
- 78
- Citations by year
- 2026: 1 · 2025: 13 · 2024: 8 · 2023: 3 · 2022: 11 · 2021: 6 · 2020: 9 · 2019: 9 · 2018: 41 · 2017: 4 · 2016: 12 · 2015: 15 · 2014: 16 · 2013: 6
- FWCI
- 10.83
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Hirsla (Landspítali University Hospital) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (WTCCC2)
- National Institute for Health and Care Research
- European Commission (223423)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- copy number variation, neurodevelopmental disorders, sex differences, male bias, ohnologs, NDE1, MYH11, MRP1, ABCC6, autism spectrum disorder, intellectual disability, schizophrenia, attention deficit hyperactivity disorder, developmental delay, epilepsy, microcephaly, penetrance, DECIPHER, array comparative genomic hybridization
- MeSH terms
- Child, Developmental Disabilities, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Male, Phenotype, Cohort Studies, Comparative Genomic Hybridization, DNA Copy Number Variations, Chromosome Duplication
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