Copy number variation and autism: New insights and clinical implications

Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for...

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Bibliographic Details
Published in:Journal of the Formosan Medical Association 2014-07, Vol.113 (7), p.400-408
Main Authors: Chung, Brian Hon-Yin, Tao, Victoria Qinchen, Tso, Winnie Wan-Yee
Format: Article
Language:English
Subjects:
autism spectrum disorder
Child Development Disorders, Pervasive - genetics
chromosome microarray
copy number variation
DNA Copy Number Variations - genetics
Genetic Counseling
Genetic Testing
Humans
Internal Medicine
Oligonucleotide Array Sequence Analysis
Physician's Role
Truth Disclosure
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Summary:Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on “what” and “how much” to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed.
ISSN:0929-6646
DOI:10.1016/j.jfma.2013.01.005