CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

dc.creatorSoler-Alfonso, Claudia
dc.creatorCarvalho, Claudia Marcia Benedetto de
dc.creatorGe, Jun
dc.creatorRoney, Erin K
dc.creatorBader, Patricia I
dc.creatorKolodziejska, Katarzyna E
dc.creatorMiller, Rachel M
dc.creatorLupski, James R
dc.creatorStankiewicz, Pawel
dc.creatorCheung, Sau Wai
dc.creatorBi, Weimin
dc.creatorSchaaf, Christian P
dc.date2021-12-30T16:33:52Z
dc.date2021-12-30T16:33:52Z
dc.date2014
dc.date.accessioned2023-09-26T21:02:51Z
dc.date.available2023-09-26T21:02:51Z
dc.identifierSOLER-ALFONSO, Claudia et al. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet, v. 22, n. 9, p. 1071-1076, 2014. doi: 10.1038/ejhg.2013.302
dc.identifier1018-4813
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/50587
dc.identifier10.1038/ejhg.2013.302
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8868280
dc.descriptionFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE MINAS GERAIS
dc.descriptionAlthough 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
dc.formatapplication/pdf
dc.languageeng
dc.publisherNature Publishing Group
dc.rightsrestricted access
dc.subjectdosage sensitivity
dc.subjectcopy number variation
dc.subjectcholinergic nervous system
dc.subjectautism spectrum disorder
dc.titleCHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
dc.typeArticle


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