Genetic heterogeneity in autism: From single gene to a pathway perspective

Joon Yong An; Charles Claudianos

doi:10.1016/j.neubiorev.2016.06.013

Genetic heterogeneity in autism: From single gene to a pathway perspective

Joon Yong An, Charles Claudianos

Research output: Contribution to journal › Review article › peer-review

38 Citations (Scopus)

Abstract

The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.

Original language	English
Pages (from-to)	442-453
Number of pages	12
Journal	Neuroscience and Biobehavioral Reviews
Volume	68
DOIs	https://doi.org/10.1016/j.neubiorev.2016.06.013
Publication status	Published - 2016 Sept 1
Externally published	Yes

Keywords

Autism spectrum disorders (ASD)
Brain gene expression
Genome sequencing
Neurodevelopment
Systems biology

ASJC Scopus subject areas

Neuropsychology and Physiological Psychology
Cognitive Neuroscience
Behavioral Neuroscience

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10.1016/j.neubiorev.2016.06.013

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title = "Genetic heterogeneity in autism: From single gene to a pathway perspective",

abstract = "The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.",

keywords = "Autism spectrum disorders (ASD), Brain gene expression, Genome sequencing, Neurodevelopment, Systems biology",

author = "An, {Joon Yong} and Charles Claudianos",

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AU - Claudianos, Charles

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AB - The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.

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KW - Brain gene expression

KW - Genome sequencing

KW - Neurodevelopment

KW - Systems biology

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JO - Neuroscience and Biobehavioral Reviews

JF - Neuroscience and Biobehavioral Reviews

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Genetic heterogeneity in autism: From single gene to a pathway perspective

Abstract

Keywords

ASJC Scopus subject areas

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