The genetic landscape of autism spectrum disorder in the Middle Eastern population
| Autor: | Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M. E. Albagha |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Frontiers in Genetics, Vol 15 (2024) |
| Druh dokumentu: | article |
| ISSN: | 1664-8021 42338174 |
| DOI: | 10.3389/fgene.2024.1363849 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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