Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing

Authors

  • Edin Hamzic Biocomputix, Sarajevo, Bosnia and Herzegovina; BioCertica, Paarl, South Africa https://orcid.org/0000-0003-2427-3153
  • Lemana Spahic International Burch University, Sarajevo, Bosnia and Herzegovina
  • Nirvana Pistoljevic Education for All (EDUS), Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0001-5909-8805
  • Eldin Dzanko Education for All (EDUS), Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0002-3812-7977
  • Sanela Pasic Department of Economics and Business, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina
  • Lejla Kadric Department of Medical Biology and Genetics, Sarajevo Medical School, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0003-0972-7508
  • Fadila Serdarevic Department of Epidemiology, Sarajevo Medical School, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina; Department of Child and Adolescent Psychiatry, Erasmus MC, Rotterdam, the Netherlands https://orcid.org/0000-0002-5803-7979
  • Aida Hajdarpasic Department of Medical Biology and Genetics, Sarajevo Medical School, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0001-8131-4084

DOI:

https://doi.org/10.17305/bb.2024.10221

Keywords:

ASD, developmental disorders, genes, whole exome sequencing

Abstract

Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through “EDUS-Education for All”, an organization providing services for children with developmental disorders in Bosnia and Herzegovina. We further rated children's autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing (WES) was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) next-generation sequencing (NGS) apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.

Downloads

Download data is not yet available.
Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing

Downloads

Published

06-02-2024

How to Cite

1.
Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing. Biomol Biomed [Internet]. 2024 Feb. 6 [cited 2024 Apr. 18];. Available from: https://bjbms.org/ojs/index.php/bjbms/article/view/10221