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

ABSTRACT:

Background

Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs involving deletions generally cause severe and highly penetrant patient phenotypes, CNVs leading to duplications tend instead to exhibit widely variable and less penetrant phenotypic expressivity among affected individuals. CNVs located on chromosome 15q13.3 affecting the alpha-7 nicotinic acetylcholine receptor subunit (CHRNA7) gene contribute to multiple neuropsychiatric disorders with highly variable penetrance. However, the basis of such differential penetrance remains uncharacterized. Here, we generated induced pluripotent stem cell (iPSC) models from first-degree relatives with a 15q13.3 duplication and analyz

SUBMITTER: Meganathan K 

PROVIDER: S-EPMC8317352 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature