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Article

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Journal of autism and developmental disorders - 1 Mar 2017

Gillentine M A, Berry L N, Goin-Kochel R P, Ali M A, Ge J, Guffey D, Rosenfeld J A, Hannig V, Bader P, Proud M, Shinawi M, Graham B H, Lin A, Lalani S R, Reynolds J, Chen M, Grebe T, Minard C G, Stankiewicz P, Beaudet A L, Schaaf C P

Abstract excerpt

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly...

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Source

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Identifiers

PMID: 27853923
DOI: 10.1007/s10803-016-2961-8
PMCID: PMC5443344

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.PMID 27853923Read ↗

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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.Semantic proximity Read ↗

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.Semantic proximity Read ↗

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