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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.

Genome medicine - 29 Oct 2021

Vysotskiy Mikhail, Zhong Xue, Miller-Fleming Tyne W, Zhou Dan, Cox Nancy J, Weiss Lauren A

Abstract excerpt

BACKGROUND: Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD). The contribution of individual CNV genes to each of these identified phenotypes is unknown, as well as the contribution of these CNV genes to other...

Topics

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Autism Spectrum Disorder
Autistic Disorder
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DiGeorge Syndrome

Intellectual Disability

Psychotic Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 34715901
DOI: 10.1186/s13073-021-00972-1
PMCID: PMC8557010

Genes

INO80E
SPN
TMEM219
NPIPB11
SCARF2
SLX1B
TAOK2
YPEL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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