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Article

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.

American journal of medical genetics. Part A - 1 Apr 2015

Bacchelli Elena, Battaglia Agatino, Cameli Cinzia, Lomartire Silvia, Tancredi Raffaella, Thomson Susanne, Sutcliffe James S, Maestrini Elena

Abstract excerpt

Chromosome 15q13.3 recurrent microdeletions are causally associated with a wide range of phenotypes, including autism spectrum disorder (ASD), seizures, intellectual disability, and other psychiatric conditions. Whether the reciprocal microduplication is pathogenic is less certain. CHRNA7, encoding for the alpha7 subunit of the neuronal nicotinic acetylcholine receptor, is considered the likely culprit gene in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25655306
DOI: 10.1002/ajmg.a.36847

Genes

CHRNA7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.PMID 25655306Read ↗

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.Semantic proximity Read ↗

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.Semantic proximity Read ↗

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.Semantic proximity Read ↗

The human clinical phenotypes of altered CHRNA7 copy number.Semantic proximity Read ↗

The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function.Semantic proximity Read ↗

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.Semantic proximity Read ↗

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.Semantic proximity Read ↗

A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia.Semantic proximity Read ↗

Copy number variation findings among 50 children and adolescents with autism spectrum disorder.Semantic proximity Read ↗

Delineation of 15q13.3 microdeletions.Semantic proximity Read ↗

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

Unanswered questions in the regulation and function of the duplicated α7 nicotinic receptor gene CHRFAM7A.Semantic proximity Read ↗

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