An Interaction-based Model for Neuropsychiatric Features of Copy-number Variants

Overview

Journal PLoS Genet

Specialty Genetics

Date 2019 Jan 18

PMID 30653500

Citations 27

Authors

Matthew Jensen

Santhosh Girirajan

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

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