Article
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.
BMC biology - 28 Jul 2021
Meganathan Kesavan, Prakasam Ramachandran, Baldridge Dustin, Gontarz Paul, Zhang Bo, Urano Fumihiko, Bonni Azad, Maloney Susan E, Turner Tychele N, Huettner James E, Constantino John N, Kroll Kristen L
Abstract excerpt
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...
Topics
- Chromosomes, Human, Pair 15
- DNA Copy Number Variations
- Humans
- Male
- Neurons
- Phenotype
- alpha7 Nicotinic Acetylcholine Receptor