ArticleHuman mutation2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 142 citations in OpenAlex.
- Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.Molecular genetics & genomic medicine · 2026Article
- Distinct mechanisms of CNV formation at the human 15q13.3 locus.bioRxiv : the preprint server for biology · 2026Article
- Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026Article
- Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?Archives of gynecology and obstetrics · 2025Article
- Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.BMC medical genomics · 2025Article
- A Novel De NovoGenes · 2024Article
- Review
- Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report.Journal of Yeungnam medical science · 2023Article
- Review
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.Scientific reports · 2022Article
- The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.International journal of molecular sciences · 2022Review
- Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.Frontiers in cell and developmental biology · 2022Review
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Auditory Dysfunction in Animal Models of Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2022Review
- Screening for Copy Number Variations of the 15q13.3 Hotspot inCurrent issues in molecular biology · 2021Article
- Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.BMC biology · 2021Article
- Article
- FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.Journal of Huntington's disease · 2021Review
- Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.European journal of human genetics : EJHG · 2021Article
- Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.Journal of epilepsy research · 2020Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
Abstract
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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