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Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A
Sek-Ying Chair1,2,3, Ka-Ming Chow1,2,3, Cecilia Wai-Ling Chan1
1The Nethersole School of Nursing, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Genes
|August 29, 2024
Summary
Autistic spectrum disorder (ASD) is a neurodevelopmental disability. This review summarizes genetic structural variations (SVs) linked to ASD in China, highlighting the need for research in diverse ethnic groups for better diagnosis.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Autistic spectrum disorder (ASD) is a neurodevelopmental disability impacting social interaction and communication.
- Increasing ASD prevalence necessitates understanding its genetic causes.
- Structural variations (SVs) are increasingly recognized as contributors to ASD etiology.
Purpose of the Study:
- To systematically review case-control studies on SVs associated with ASD in the Chinese population.
- To identify genes implicated in ASD within the Chinese ethnic group.
- To underscore the need for research on diverse genetic backgrounds.
Main Methods:
- Systematic literature review of case-control studies.
- Focus on studies investigating structural variations (SVs) in ASD.
- Inclusion of studies specifically on the Chinese population.
Main Results:
- Nine studies were included in the systematic review.
- A list of genes associated with ASD in the Chinese population was compiled.
- The review highlights a gap in research on non-Caucasian populations.
Conclusions:
- Structural variations play a role in ASD pathogenesis across different ethnicities.
- Further research on diverse genetic backgrounds is crucial for understanding ASD etiology.
- Ethnic-oriented genetic diagnosis for ASD requires broader ethnic-based research.
Keywords:
ASDCNVChinaChineseHanautismautism spectrum disordercopy number variationgeneticsstructural variationMore Related Videos
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