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...
Topics
- Adolescent
- Autism Spectrum Disorder
- Case-Control Studies
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Male
- Polymorphism, Single Nucleotide