Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman DOI Open Access
Vijay Gupta, Afif Ben‐Mahmoud, Ahmed B. Idris

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(24), P. 13700 - 13700

Published: Dec. 21, 2024

Deficits in social communication, restricted interests, and repetitive behaviours are hallmarks of autism spectrum disorder (ASD). Despite high genetic heritability, the majority clinically diagnosed ASD cases have unknown origins. We performed genome sequencing on mothers, fathers, affected individuals from 104 families with Oman, a Middle Eastern country underrepresented international studies. This approach identified 48 novel candidate genes significantly associated Oman. In particular, 35 these been previously implicated neurodevelopmental disorders (NDDs) other populations, underscoring conserved basis across ethnicities. Genetic variants within that would impact encoded protein included 1 insertion, 4 frameshift, 6 splicing, 12 nonsense, 67 missense changes. Notably, 61% SNVs were homozygous, suggesting prominent recessive architecture for this unique population. The scarcity studies Arabian Peninsula has impeded understanding landscape region. These findings help bridge knowledge gap provide valuable insights into complex

Language: Английский

Genomics of rare diseases in the Greater Middle East DOI

Ikram Chekroun,

Shruti Shenbagam, Mohamed A. Almarri

et al.

Nature Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 3, 2025

Language: Английский

Citations

0
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman DOI Open Access
Vijay Gupta, Afif Ben‐Mahmoud, Ahmed B. Idris

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(24), P. 13700 - 13700

Published: Dec. 21, 2024

Deficits in social communication, restricted interests, and repetitive behaviours are hallmarks of autism spectrum disorder (ASD). Despite high genetic heritability, the majority clinically diagnosed ASD cases have unknown origins. We performed genome sequencing on mothers, fathers, affected individuals from 104 families with Oman, a Middle Eastern country underrepresented international studies. This approach identified 48 novel candidate genes significantly associated Oman. In particular, 35 these been previously implicated neurodevelopmental disorders (NDDs) other populations, underscoring conserved basis across ethnicities. Genetic variants within that would impact encoded protein included 1 insertion, 4 frameshift, 6 splicing, 12 nonsense, 67 missense changes. Notably, 61% SNVs were homozygous, suggesting prominent recessive architecture for this unique population. The scarcity studies Arabian Peninsula has impeded understanding landscape region. These findings help bridge knowledge gap provide valuable insights into complex

Language: Английский

Citations

2