Journal article
The genetic landscape of autism spectrum disorder in the Middle Eastern population
Frontiers in genetics, Vol.15, 1363849
03/01/2024
DOI: 10.3389/fgene.2024.1363849
PMCID: PMC10987745
PMID: 38572415
Abstract
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk.Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents).Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD (DTX4, ARMC6, and B3GNT3). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B,SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, and KCNK9). Additionally, we defined eight novel recessive variants (RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3), four of which were X-linked.Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar's Middle Eastern population.
Details
- Title: Subtitle
- The genetic landscape of autism spectrum disorder in the Middle Eastern population
- Creators
- Yasser Al-Sarraj - Hamad bin Khalifa UniversityRowaida Z. Taha - Hamad bin Khalifa UniversityEman Al-Dous - Hamad bin Khalifa UniversityDina Ahram - Quest DiagnosticsSomayyeh Abbasi - Hamad bin Khalifa UniversityEman Abuazab - Hamad bin Khalifa UniversityHibah Shaath - Hamad bin Khalifa UniversityWesal Habbab - Hamad bin Khalifa UniversityKhaoula Errafii - Hamad bin Khalifa UniversityYosra Bejaoui - Hamad bin Khalifa UniversityMaryam AlMotawa - Hamad bin Khalifa UniversityNamat Khattab - Hamad bin Khalifa UniversityYasmin Abu Aqel - Hamad bin Khalifa UniversityKarim E. Shalaby - Hamad bin Khalifa UniversityAmina Al-Ansari - Hamad bin Khalifa UniversityMarios Kambouris - Hamad bin Khalifa UniversityAdel Abouzohri - Hamad bin Khalifa UniversityIman Ghazal - Hamad bin Khalifa UniversityMohammed Tolfat - Shafallah CenterFouad Alshaban - Hamad bin Khalifa UniversityHatem El-Shanti - University of IowaOmar M. E. Albagha - Hamad bin Khalifa University
- Resource Type
- Journal article
- Publication Details
- Frontiers in genetics, Vol.15, 1363849
- Publisher
- Frontiers Media S.A
- DOI
- 10.3389/fgene.2024.1363849
- PMID
- 38572415
- PMCID
- PMC10987745
- eISSN
- 1664-8021
- Language
- English
- Date published
- 03/01/2024
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984577054602771
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