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Decoding the genetic landscape of autism:A comprehensive review

World Journal of Clinical Pediatrics 2024年第3期13卷 98-136页

作者： Mohammed Al-Beltagi Nermin Kamal Saeed Adel Salah bediwy eman a bediwy Reem Elbeltagi Department of Pediatric Faculty of MedicineTanta UniversityAlghrabiaTanta 31511Egypt Department of Pediatric University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671Bahrain Medical Microbiology Section Department of PathologySalmaniya Medical ComplexMinistry of HealthKingdom of BahrainManama 12Bahrain Medical Microbiology Section Department of PathologyIrish Royal College of SurgeonMuharraqBusaiteen 15503Bahrain Department of Pulmonology Faculty of MedicineTanta UniversityAlghrabiaTanta 31527Egypt Department of Pulmonology University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671Bahrain Internal Medicine Faculty of MedicineTanta UniversityAlgharbiaTanta 31527Egypt Department of Medicine The Royal College of Surgeons in Ireland-BahrainMuharraqBusiateen 15503Bahrain

BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic *** advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD,influencing both diagnosis and therapeutic *** To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment *** A comprehensive systematic review was conducted,integrating findings from studies on genetic variations,epigenetic mechanisms(such as DNA methylation and histone modifications),and emerging technologies[including Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)-Cas9 and single-cell RNA sequencing].Relevant articles were identified through systematic searches of databases such as PubMed and Google *** Genetic studies have identified numerous risk genes and mutations associated with ASD,yet many cases remain unexplained by known factors,suggesting undiscovered genetic *** insights into how these genetic mutations impact neural development and brain connectivity are still *** modifications,particularly DNA methylation and non-coding RNAs,also play significant roles in ASD *** technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic *** Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective *** efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical *** unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targ

关键词： Autism spectrum disorder Genetics Epigenetics Clustered Regularly Interspaced Short Palindromic Repeats-Cas9 Gene-environment interactions Personalized medicine

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