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

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 th...

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Published inCurrent genomics Vol. 26; no. 4; pp. 249 - 259
Main Authors Lu, Yung-Hsiu, Chen, Yann-Jang, Lin, Shan-Ju, Hsu, Ting-Rong, Niu, Dau-Ming, Lin, Wei-Sheng
Format Journal Article
LanguageEnglish
Published Bentham Science Publishers 2025
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Summary: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.
ISSN:1389-2029
DOI:10.2174/0113892029338299241211063307