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Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.


ABSTRACT: This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

SUBMITTER: Al-Mamari W 

PROVIDER: S-EPMC10071987 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.

Al-Mamari Watfa W   Idris Ahmed B AB   Al-Thihli Khalid K   Abdulrahim Reem R   Jalees Saquib S   Al-Jabri Muna M   Gabr Ahlam A   Al Murshedi Fathiya F   Al Kindy Adila A   Al-Hadabi Intisar I   Bruwer Zandrè Z   Islam M Mazharul MM   Alsayegh Abeer A  

International journal of developmental disabilities 20210621 2


This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnost  ...[more]

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