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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalInternational Journal of Developmental Disabilities
DOIs
Publication statusAccepted/In press - 2021
Externally publishedYes

Keywords

  • Autism spectrum disorder
  • clinical predictors
  • whole exome sequencing

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Psychiatry and Mental health

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