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

Watfa Al-Mamari; Ahmed B Idris; Khalid Al-Thihli; Reem Abdulrahim; Saquib Jalees; Muna Al-Jabri; Ahlam Gabr; Fathiya Al Murshedi; Adila Al Kindy; Intisar Al-Hadabi; Zandrè Bruwer; M Mazharul Islam; Abeer Alsayegh

doi:10.1080/20473869.2021.1937000

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

Int J Dev Disabil. 2021 Jun 21;69(2):190-200. doi: 10.1080/20473869.2021.1937000. eCollection 2023.

Affiliations

¹ Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
² Genetic Department, Sultan Qaboos University Hospital, Muscat, Oman.
³ Department of Nursing, Sultan Qaboos University Hospital, Muscat, Oman.
⁴ Department of Statistics, College of Science, Sultan Qaboos University, Muscat, Oman.

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.

Keywords: Autism spectrum disorder; clinical predictors; whole exome sequencing.

Grants and funding

The authors declare that no funding was received from any agency for the research.