ArticleEuropean journal of human genetics : EJHG2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- DNA Replication Errors Drive Genome-Wide Small Inverted Triplication Dynamics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- CLinNET: An Interpretable and Uncertainty-Aware Deep Learning Framework for Multi-Modal Clinical Genomics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- Translational implications of CHRFAM7A, an elusive human-restricted fusion gene.Molecular psychiatry · 2024Review
- The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.Molecular genetics & genomic medicine · 2024Article
- Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.American journal of human genetics · 2022Article
- Article
- Nicotinic Acetylcholine Receptor α7 Subunit Is an Essential Regulator of Seizure Susceptibility.Frontiers in neurology · 2021Article
- Value of long non-coding RNA Rpph1 in esophageal cancer and its effect on cancer cell sensitivity to radiotherapy.World journal of gastroenterology · 2020Observational
- Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.Molecular cytogenetics · 2019Article
- Long non-coding RNA RPPH1 promotes the proliferation, invasion and migration of human acute myeloid leukemia cells through down-regulating miR-330-5p expression.EXCLI journal · 2019Article
- Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.Molecular neurobiology · 2017Article
- The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.Journal of autism and developmental disorders · 2017Article
- Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Scientific reports · 2017Article
- Inhibition of breast cancer cell proliferation and tumorigenesis by long non-coding RNACancer cell international · 2017Article
- Article
- Nicotine Elicits Convulsive Seizures by Activating Amygdalar Neurons.Frontiers in pharmacology · 2017Article
- Major influence of repetitive elements on disease-associated copy number variants (CNVs).Human genomics · 2016Review
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- The human clinical phenotypes of altered CHRNA7 copy number.Biochemical pharmacology · 2015Review
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Authors and funding
12 authors.
Funding
Abstract
Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. We present the first report of CHRNA7 triplication. Three generations of a family affected with various neuropsychiatric phenotypes, including anxiety, bipolar disorder, developmental delay and ID, were studied with array comparative genomic hybridization (aCGH). High-resolution aCGH revealed a 650-kb triplication at chromosome 15q13.3 encompassing the CHRNA7 gene, which encodes the alpha7 subunit of the neuronal nicotinic acetylcholine receptor. A small duplication precedes the triplication at the proximal breakpoint junction, and analysis of the breakpoint indicates that the triplicated segment is in an inverted orientation with respect to the duplication. CHRNA7 triplication appears to occur by a replication-based mechanism that produces inverted triplications embedded within duplications. Co-segregation of the CHRNA7 triplication with neuropsychiatric and cognitive phenotypes provides further evidence for dosage sensitivity of CHRNA7.
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