Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
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We have investigated four approximately 1.6-Mb microduplications and 55 smaller 350-680-kb microduplications at 15q13.2-q13.3 involving the CHRNA7 gene that were detected by clinical microarray analysis. Applying high-resolution array-CGH, we mapped all 118 chromosomal breakpoints of these microduplications. We also sequenced 26 small microduplication breakpoints that were clustering at hotspots of nonallelic homologous recombination (NAHR). All four large microduplications likely arose by NAHR between BP4 and BP5 LCRs, and 54 small microduplications arose by NAHR between two CHRNA7-LCR copies. We identified two classes of approximately 1.6-Mb microduplications and five classes of small microduplications differing in duplication size, and show that they duplicate the entire CHRNA7. We propose that size differences among small microduplications result from preexisting heterogeneity of the common BP4-BP5 inversion. Clinical data and family histories of 11 patients with small microduplications involving CHRNA7 suggest that these microduplications might be associated with developmental delay/mental retardation, muscular hypotonia, and a variety of neuropsychiatric disorders. However, we conclude that these microduplications and their associated potential for increased dosage of the CHRNA7-encoded alpha 7 subunit of nicotinic acetylcholine receptors are of uncertain clinical significance at present. Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders.
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These CHRNA7 duplications are considered of uncertain clinical significance because they were previously detected at similar frequencies in patients with epilepsy, controls, and subjects referred for chromosomal microarray analysis.
“These duplications are considered of uncertain clinical significance since they were previously detected at similar frequencies in patients with epilepsy (6 of 647, 0.93%), in controls (19 of 3699, 0.51%) [50], and in subjects referred for chromosomal microarray analysis (55 of 8832, 0.62%) [51].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [51]
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- Authors
- Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., Kang, S.-H., Patel, A., Cheung, S. W., Probst, F. J., Graham, B. H., Shinawi, M., Beaudet, A. L., & Stankiewicz, P.
- Affiliations
- Baylor College of Medicine (US)
- ORCID
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2010-05-10
- Volume
- 31
- Issue
- 7
- Pages
- 840-850
- ISSN
- 1059-7794 (ISSN-L)
- PMC
- PMC3162316
- OpenAlex
- W2024129111
- Cited by
- 134
- References
- 49
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 7 · 2021: 12 · 2020: 8 · 2019: 8 · 2018: 3 · 2017: 5 · 2016: 14 · 2015: 10 · 2014: 9 · 2013: 14 · 2012: 14
- FWCI
- 8.09
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of General Medical Sciences (T32GM007526)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- CHRNA7, non-allelic homologous recombination, developmental delay, intellectual disability, neuropsychiatric disorders, clinical significance, chromosomal microarray analysis
- MeSH terms
- Mental Disorders, Child, Developmental Disabilities, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Family Health, Female, Humans, Male, Intellectual Disability, Molecular Sequence Data, Muscle Hypotonia, Pedigree, Receptors, Nicotinic, Sequence Analysis, DNA, Chromosome Breakage, Gene Duplication, Chromosome Disorders, Comparative Genomic Hybridization, alpha7 Nicotinic Acetylcholine Receptor
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