This Month in The Journal

Copy-number variants (CNVs) of chromosomal region 15q13.3 are associated with a broad neuropsychiatric condition that includes intellectual disability, developmental delay, epilepsy, autism spectrum disorder, and schizophrenia. Several studies narrowing the critical region have suggested that the phenotype appears to be driven largely by CHRNA7, encoding the α7 nicotinic acetylcholine receptor (α7 nAChR), and that duplications result in a milder phenotype than deletions. However, the mechanism underlying the pathogenicity is unclear.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors' Corner Source Type: research