The genetic landscape of autism spectrum disorder in the Middle Eastern population
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...
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| Published in | Frontiers in genetics Vol. 15; p. 1363849 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Switzerland
Frontiers Media S.A
20.03.2024
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1664-8021 1664-8021 |
| DOI | 10.3389/fgene.2024.1363849 |
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| 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. |
|---|---|
| AbstractList | 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.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. 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. 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. 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 or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents). 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 variants in new candidate genes for ASD ( , , and ). Also, we have identified 15 variants in genes that were previously implicated in ASD or related neurodevelopmental disorders ( , , , , , , , , , , , , , and ). Additionally, we defined eight novel recessive variants ( , , , , , and ), four of which were X-linked. 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. 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. 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. |
| Author | Khattab, Namat Al-Ansari, Amina Tolfat, Mohammed Ghazal, Iman Abouzohri, Adel Al-Sarraj, Yasser Kambouris, Marios Ahram, Dina Albagha, Omar M. E. Al-Dous, Eman Alshaban, Fouad Errafii, Khaoula Shaath, Hibah Bejaoui, Yosra El-Shanti, Hatem Habbab, Wesal Shalaby, Karim E. AlMotawa, Maryam Taha, Rowaida Z. Abbasi, Somayyeh Abuazab, Eman Aqel, Yasmin Abu |
| AuthorAffiliation | 2 Qatar Biomedical Research Institute (QBRI) , Hamad Bin Khalifa University , Doha , Qatar 3 Qatar Genome Program , Qatar Foundation Research , Development and Innovation , Qatar Foundation , Doha , Qatar 4 Quest Diagnostics Nichols Institute , San Juan Capistrano , CA , United States 6 The Shafallah Center for Children with Special Needs , Doha , Qatar 1 College of Health and Life Sciences , Hamad Bin Khalifa University , Doha , Qatar 5 Pathology & Laboratory Medicine Department , Genetics Division , Sidra Medicine , Doha , Qatar 7 Department of Pediatrics , Carver College of Medicine , University of Iowa , Iowa City , IA , United States |
| AuthorAffiliation_xml | – name: 1 College of Health and Life Sciences , Hamad Bin Khalifa University , Doha , Qatar – name: 6 The Shafallah Center for Children with Special Needs , Doha , Qatar – name: 4 Quest Diagnostics Nichols Institute , San Juan Capistrano , CA , United States – name: 2 Qatar Biomedical Research Institute (QBRI) , Hamad Bin Khalifa University , Doha , Qatar – name: 5 Pathology & Laboratory Medicine Department , Genetics Division , Sidra Medicine , Doha , Qatar – name: 7 Department of Pediatrics , Carver College of Medicine , University of Iowa , Iowa City , IA , United States – name: 3 Qatar Genome Program , Qatar Foundation Research , Development and Innovation , Qatar Foundation , Doha , Qatar |
| Author_xml | – sequence: 1 givenname: Yasser surname: Al-Sarraj fullname: Al-Sarraj, Yasser – sequence: 2 givenname: Rowaida Z. surname: Taha fullname: Taha, Rowaida Z. – sequence: 3 givenname: Eman surname: Al-Dous fullname: Al-Dous, Eman – sequence: 4 givenname: Dina surname: Ahram fullname: Ahram, Dina – sequence: 5 givenname: Somayyeh surname: Abbasi fullname: Abbasi, Somayyeh – sequence: 6 givenname: Eman surname: Abuazab fullname: Abuazab, Eman – sequence: 7 givenname: Hibah surname: Shaath fullname: Shaath, Hibah – sequence: 8 givenname: Wesal surname: Habbab fullname: Habbab, Wesal – sequence: 9 givenname: Khaoula surname: Errafii fullname: Errafii, Khaoula – sequence: 10 givenname: Yosra surname: Bejaoui fullname: Bejaoui, Yosra – sequence: 11 givenname: Maryam surname: AlMotawa fullname: AlMotawa, Maryam – sequence: 12 givenname: Namat surname: Khattab fullname: Khattab, Namat – sequence: 13 givenname: Yasmin Abu surname: Aqel fullname: Aqel, Yasmin Abu – sequence: 14 givenname: Karim E. surname: Shalaby fullname: Shalaby, Karim E. – sequence: 15 givenname: Amina surname: Al-Ansari fullname: Al-Ansari, Amina – sequence: 16 givenname: Marios surname: Kambouris fullname: Kambouris, Marios – sequence: 17 givenname: Adel surname: Abouzohri fullname: Abouzohri, Adel – sequence: 18 givenname: Iman surname: Ghazal fullname: Ghazal, Iman – sequence: 19 givenname: Mohammed surname: Tolfat fullname: Tolfat, Mohammed – sequence: 20 givenname: Fouad surname: Alshaban fullname: Alshaban, Fouad – sequence: 21 givenname: Hatem surname: El-Shanti fullname: El-Shanti, Hatem – sequence: 22 givenname: Omar M. E. surname: Albagha fullname: Albagha, Omar M. E. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38572415$$D View this record in MEDLINE/PubMed |
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| Copyright | Copyright © 2024 Al-Sarraj, Taha, Al-Dous, Ahram, Abbasi, Abuazab, Shaath, Habbab, Errafii, Bejaoui, AlMotawa, Khattab, Aqel, Shalaby, Al-Ansari, Kambouris, Abouzohri, Ghazal, Tolfat, Alshaban, El-Shanti and Albagha. Copyright © 2024 Al-Sarraj, Taha, Al-Dous, Ahram, Abbasi, Abuazab, Shaath, Habbab, Errafii, Bejaoui, AlMotawa, Khattab, Aqel, Shalaby, Al-Ansari, Kambouris, Abouzohri, Ghazal, Tolfat, Alshaban, El-Shanti and Albagha. 2024 Al-Sarraj, Taha, Al-Dous, Ahram, Abbasi, Abuazab, Shaath, Habbab, Errafii, Bejaoui, AlMotawa, Khattab, Aqel, Shalaby, Al-Ansari, Kambouris, Abouzohri, Ghazal, Tolfat, Alshaban, El-Shanti and Albagha |
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| Keywords | epilepsy de novo mutation genetics next-generation sequencing (NGS) copy number variation (CNV) autism spectrum disorder (ASD) neurodevelopmental disorders |
| Language | English |
| License | Copyright © 2024 Al-Sarraj, Taha, Al-Dous, Ahram, Abbasi, Abuazab, Shaath, Habbab, Errafii, Bejaoui, AlMotawa, Khattab, Aqel, Shalaby, Al-Ansari, Kambouris, Abouzohri, Ghazal, Tolfat, Alshaban, El-Shanti and Albagha. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
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Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and... Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with... Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and... |
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| SubjectTerms | autism spectrum disorder (ASD) copy number variation (CNV) de novo mutation epilepsy Genetics neurodevelopmental disorders next-generation sequencing (NGS) |
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| Title | The genetic landscape of autism spectrum disorder in the Middle Eastern population |
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