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An interaction-based model for neuropsychiatric features of copy-number variants
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An interaction-based model for neuropsychiatric features of copy-number variants
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An interaction-based model for neuropsychiatric features of copy-number variants
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Journal Article
An interaction-based model for neuropsychiatric features of copy-number variants
2019
Overview
Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful. Here, we posit using multiple lines of evidence, including pathogenicity metrics, functional assays of model organisms, and gene expression data, that multiple genes within each CNV region are likely responsible for the observed phenotypes. We propose that candidate genes within each region likely interact with each other through shared pathways to modulate the individual gene phenotypes, emphasizing the genetic complexity of CNV-associated neuropsychiatric features.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
Abnormalities, Multiple - genetics
/ Abnormalities, Multiple - physiopathology
/ Autism
/ Chromosome Disorders - genetics
/ Chromosome Disorders - physiopathology
/ Chromosome Duplication - genetics
/ DNA Copy Number Variations - genetics
/ Genes
/ Genetic Predisposition to Disease
/ Genomes
/ Humans
/ Kinases
/ Medicine and Health Sciences
/ Mutation
/ Research and Analysis Methods
/ Smith-Magenis Syndrome - genetics
/ Smith-Magenis Syndrome - physiopathology
/ Sotos Syndrome - physiopathology
