16p11.2 Copy Number Variations and Neurodevelopmental Disorders.

16p11.2 Copy Number Variations and Neurodevelopmental Disorders.
Trends Neurosci. 2020 Sep 26;:
Authors: Rein B, Yan Z
Abstract
Copy number variations (CNVs) of the human 16p11.2 genetic locus are associated with a range of neurodevelopmental disorders, including autism spectrum disorder, intellectual disability, and epilepsy. In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgenic mouse models of 16p11.2 CNVs. Mice with 16p11.2 deletions or duplications recapitulate many core behavioral phenotypes, including social and cognitive deficits, and exhibit altered synaptic function across various brain areas. Mechanisms of transcriptional dysregulation and cortical maldevelopment are reviewed, along with potential therapeutic intervention strategies.
PMID: 32993859 [PubMed - as supplied by publisher]

Source: Trends in Neurosciences - September 25, 2020 Category: Neuroscience Authors: Rein B, Yan Z Tags: Trends Neurosci Source Type: research