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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2014-07-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664613000570 |
| _version_ | 1819030761654714368 |
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| author | Brian Hon-Yin Chung Victoria Qinchen Tao Winnie Wan-Yee Tso |
| author_facet | Brian Hon-Yin Chung Victoria Qinchen Tao Winnie Wan-Yee Tso |
| author_sort | Brian Hon-Yin Chung |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T06:35:18Z |
| format | Article |
| id | doaj.art-a8d05040c7e44bfca6e45bd89e015024 |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-21T06:35:18Z |
| publishDate | 2014-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-a8d05040c7e44bfca6e45bd89e0150242022-12-21T19:12:54ZengElsevierJournal of the Formosan Medical Association0929-66462014-07-01113740040810.1016/j.jfma.2013.01.005Copy number variation and autism: New insights and clinical implicationsBrian Hon-Yin Chung0Victoria Qinchen Tao1Winnie Wan-Yee Tso2Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative RegionDepartment of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative RegionDepartment of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative RegionGenomic 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.http://www.sciencedirect.com/science/article/pii/S0929664613000570autism spectrum disorderchromosome microarraycopy number variationgenetic counselinggenetic testing |
| spellingShingle | Brian Hon-Yin Chung Victoria Qinchen Tao Winnie Wan-Yee Tso Copy number variation and autism: New insights and clinical implications Journal of the Formosan Medical Association autism spectrum disorder chromosome microarray copy number variation genetic counseling genetic testing |
| title | Copy number variation and autism: New insights and clinical implications |
| title_full | Copy number variation and autism: New insights and clinical implications |
| title_fullStr | Copy number variation and autism: New insights and clinical implications |
| title_full_unstemmed | Copy number variation and autism: New insights and clinical implications |
| title_short | Copy number variation and autism: New insights and clinical implications |
| title_sort | copy number variation and autism new insights and clinical implications |
| topic | autism spectrum disorder chromosome microarray copy number variation genetic counseling genetic testing |
| url | http://www.sciencedirect.com/science/article/pii/S0929664613000570 |
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