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Whole Exome Sequencing Analysis of Individuals with Autism Spectrum Disorder


Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and interaction and the presence of repetitive behaviors and or restricted interests. ASD has heterogeneous genetic and environmental etiologies, but for most individuals with ASD the genetic cause is unknown. Determining the genetic factors contributing to an individual’s ASD phenotype is a goal in the clinic setting, as well as an important mechanism for understanding the broader pathology of ASD. As part of a larger research study, individuals with ASD and some family members had whole exome sequencing. For six probands with samples from both parents available, potential de novo variants were identified and assessed for their ability to contribute to the proband’s ASD phenotype. Some variants were in genes previously associated with non-syndromic ASD, and variants in common pathways across different probands were identified, including those involved in axon guidance. For an additional proband an analysis of the chromosomal region identified as a small deletion by a clinical microarray was completed to assess if sequence level information could contribute to the interpretation of this result. The analysis lessened the suspicion that this copy number variant contributed to the proband’s ASD phenotype. Future analysis of this data set, especially inherited variants, will continue to identify biological processes that affect the complex ASD phenotype. As an emerging technology in the genetics clinic and as a research tool, whole exome sequencing will contribute to our understanding of ASD and identify genetic targets for future discovery, diagnostics, and therapeutics.

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