# Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review

## TL;DR

This mini-review explores how genetic changes in 16p11.2 and 22q11.2 regions are linked to various neurological and psychiatric conditions, and how recent research is improving our understanding of these disorders.

## Contribution

The paper provides updated clinical and mechanistic insights into 16p11.2- and 22q11.2-related disorders and highlights potential therapeutic implications.

## Key findings

- CNVs in 16p11.2 and 22q11.2 are associated with autism, ADHD, cognitive impairment, epilepsy, and schizophrenia.
- Recent advances in technology and bioinformatics have improved understanding of the neurobiology of these disorders.
- Gene-gene interactions and multiple genes at these loci complicate the understanding of their pathogenesis.

## Abstract

Copy Number Variations (CNVs) involving 16p11.2 or 22q11.2 are often linked to neurodevelopmental and neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, cognitive impairment, epilepsy, and schizophrenia. The pathogenetic mechanisms underlying these neurological phenotypes remain incompletely understood, partly due to the multitude of genes involved and the complex gene-gene interactions at these loci. Nonetheless, recent advances in experimental technology and bioinformatics have greatly enhanced our understanding of the neurobiology of 16p11.2- and 22q11.2-related disorders. Herein, we aim to provide an updated mini-review on neurological aspects of these disease-associated CNVs, with emphasis on clinical and mechanistic insights as well as potential therapeutic implications.