The genetic landscape of autism spectrum disorder in the Middle Eastern population
<h3>Introduction</h3><p dir="ltr"> 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,...
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| مؤلفون آخرون: | , , , , , , , , , , , , , , , , , , , , |
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2024
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| _version_ | 1864513509354635264 |
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| author | Yasser Al-Sarraj (11721425) |
| author2 | Rowaida Z. Taha (8854754) Eman Al-Dous (124700) Dina Ahram (18508161) Somayyeh Abbasi (19326025) Eman Abuazab (19326028) Hibah Shaath (5599658) Wesal Habbab (17346961) Khaoula Errafii (19326031) Yosra Bejaoui (8552574) Maryam AlMotawa (19326034) Namat Khattab (14152752) Yasmin Abu Aqel (15430057) Karim E. Shalaby (12267224) Amina Al-Ansari (19326037) Marios Kambouris (3441308) Adel Abouzohri (19326040) Iman Ghazal (6176756) Mohammed Tolfat (18508164) Fouad Alshaban (6176771) Hatem El-Shanti (492142) Omar M. E. Albagha (11704871) |
| author2_role | author author author author author author author author author author author author author author author author author author author author author |
| author_facet | Yasser Al-Sarraj (11721425) Rowaida Z. Taha (8854754) Eman Al-Dous (124700) Dina Ahram (18508161) Somayyeh Abbasi (19326025) Eman Abuazab (19326028) Hibah Shaath (5599658) Wesal Habbab (17346961) Khaoula Errafii (19326031) Yosra Bejaoui (8552574) Maryam AlMotawa (19326034) Namat Khattab (14152752) Yasmin Abu Aqel (15430057) Karim E. Shalaby (12267224) Amina Al-Ansari (19326037) Marios Kambouris (3441308) Adel Abouzohri (19326040) Iman Ghazal (6176756) Mohammed Tolfat (18508164) Fouad Alshaban (6176771) Hatem El-Shanti (492142) Omar M. E. Albagha (11704871) |
| author_role | author |
| dc.creator.none.fl_str_mv | Yasser Al-Sarraj (11721425) Rowaida Z. Taha (8854754) Eman Al-Dous (124700) Dina Ahram (18508161) Somayyeh Abbasi (19326025) Eman Abuazab (19326028) Hibah Shaath (5599658) Wesal Habbab (17346961) Khaoula Errafii (19326031) Yosra Bejaoui (8552574) Maryam AlMotawa (19326034) Namat Khattab (14152752) Yasmin Abu Aqel (15430057) Karim E. Shalaby (12267224) Amina Al-Ansari (19326037) Marios Kambouris (3441308) Adel Abouzohri (19326040) Iman Ghazal (6176756) Mohammed Tolfat (18508164) Fouad Alshaban (6176771) Hatem El-Shanti (492142) Omar M. E. Albagha (11704871) |
| dc.date.none.fl_str_mv | 2024-03-20T12:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3389/fgene.2024.1363849 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/The_genetic_landscape_of_autism_spectrum_disorder_in_the_Middle_Eastern_population/26491159 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences autism spectrum disorder (ASD) neurodevelopmental disorders epilepsy next-generation sequencing (NGS) copy number variation (CNV) de novo mutation genetics |
| dc.title.none.fl_str_mv | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Introduction</h3><p dir="ltr"> 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.</p><h3>Methods</h3><p dir="ltr"> 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).</p><h3>Results</h3><p dir="ltr"> 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 (<i>DTX4, ARMC6, and B3GNT3</i>). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (<i>PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B,SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, </i>and <i>KCNK9</i>). Additionally, we defined eight novel recessive variants (<i>RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3</i>), four of which were X-linked.</p><h3>Conclusion</h3><p dir="ltr"> 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Frontiers in Genetics<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3389/fgene.2024.1363849" target="_blank">https://dx.doi.org/10.3389/fgene.2024.1363849</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_4d45a8016367981972447e2d222a9c07 |
| identifier_str_mv | 10.3389/fgene.2024.1363849 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26491159 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | The genetic landscape of autism spectrum disorder in the Middle Eastern populationYasser Al-Sarraj (11721425)Rowaida Z. Taha (8854754)Eman Al-Dous (124700)Dina Ahram (18508161)Somayyeh Abbasi (19326025)Eman Abuazab (19326028)Hibah Shaath (5599658)Wesal Habbab (17346961)Khaoula Errafii (19326031)Yosra Bejaoui (8552574)Maryam AlMotawa (19326034)Namat Khattab (14152752)Yasmin Abu Aqel (15430057)Karim E. Shalaby (12267224)Amina Al-Ansari (19326037)Marios Kambouris (3441308)Adel Abouzohri (19326040)Iman Ghazal (6176756)Mohammed Tolfat (18508164)Fouad Alshaban (6176771)Hatem El-Shanti (492142)Omar M. E. Albagha (11704871)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesNeurosciencesautism spectrum disorder (ASD)neurodevelopmental disordersepilepsynext-generation sequencing (NGS)copy number variation (CNV)de novo mutationgenetics<h3>Introduction</h3><p dir="ltr"> 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.</p><h3>Methods</h3><p dir="ltr"> 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).</p><h3>Results</h3><p dir="ltr"> 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 (<i>DTX4, ARMC6, and B3GNT3</i>). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (<i>PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B,SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, </i>and <i>KCNK9</i>). Additionally, we defined eight novel recessive variants (<i>RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3</i>), four of which were X-linked.</p><h3>Conclusion</h3><p dir="ltr"> 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.</p><h2>Other Information</h2><p dir="ltr">Published in: Frontiers in Genetics<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3389/fgene.2024.1363849" target="_blank">https://dx.doi.org/10.3389/fgene.2024.1363849</a></p>2024-03-20T12:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3389/fgene.2024.1363849https://figshare.com/articles/journal_contribution/The_genetic_landscape_of_autism_spectrum_disorder_in_the_Middle_Eastern_population/26491159CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/264911592024-03-20T12:00:00Z |
| spellingShingle | The genetic landscape of autism spectrum disorder in the Middle Eastern population Yasser Al-Sarraj (11721425) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences autism spectrum disorder (ASD) neurodevelopmental disorders epilepsy next-generation sequencing (NGS) copy number variation (CNV) de novo mutation genetics |
| status_str | publishedVersion |
| title | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| title_full | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| title_fullStr | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| title_full_unstemmed | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| title_short | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| title_sort | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences autism spectrum disorder (ASD) neurodevelopmental disorders epilepsy next-generation sequencing (NGS) copy number variation (CNV) de novo mutation genetics |