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Molecular diagnostic yield of whole-exome sequencing in Saudi autistic children with epilepsy.
Alharbi, Asmaa Ali; Al-Zahrani, Maryam Hassan; Ebbi, Maram Mohammed; Alqurashi, May Majed; Baqays, Afnan Abdulrahman; Shami, Ashjan; Alghamdi, Rana Abdullah; Alzahrani, Alaa Hassan.
Afiliación
  • Alharbi AA; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah First Health Cluster, Saudi Arabia.
  • Al-Zahrani MH; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah First Health Cluster, Saudi Arabia.
  • Ebbi MM; Developmental and Behavioral Disorders Center, Alamal Complex Developmental and Behavioral Disorders Center, Jeddah Health, Ministry of Health.
  • Alqurashi MM; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah First Health Cluster, Saudi Arabia.
  • Baqays AA; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah First Health Cluster, Saudi Arabia.
  • Shami A; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif University, Taif, Saudi Arabia.
  • Alghamdi RA; Department of Chemistry, Science and Arts College, King Abdulaziz University, Rabigh, Saudi Arabia.
  • Alzahrani AH; Regenerative Medicine Unit, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, Saudi Arabia.
Int J Health Sci (Qassim) ; 18(3): 15-22, 2024.
Article en En | MEDLINE | ID: mdl-38721139
ABSTRACT

Objectives:

Autism spectrum disorder (ASD) is a neurological condition that affects social communication and causes repetitive behavior. Autistic children often have comorbidities such as epilepsy. Although the co-occurrence of epilepsy and ASD is frequent, the genetic basis for this association is not fully understood. Many cases of ASD and epilepsy remain unresolved without a molecular diagnosis. The purpose of this study was to determine the molecular diagnostic yield in two Saudi families with a single affected offspring with both ASD and epilepsy using whole-exome sequencing (WES).

Methods:

Pediatric patients were diagnosed by a pediatric psychiatrist and neurologist, and diagnosed according to the diagnostic and statistical manual of mental disorders (DSM-V) criteria. WES was used to analyze the coding region of DNA from the two trios. Enrichment analysis was performed on the final list of genes.

Results:

De novo variations were detected in eleven genes (two in ZBTB17 and FRG, and one each in CAD, CTNNA3, GILGA8J, CCZ1, CASKIN1, growth differentiation factor (GDF7), NBPF10, DUX4L4, and ZNF681). Variations in CTNNA3, GOLGA8J, CASKIN1, CCZ1, and NBPF10 genes were correlated to autism. In addition, similar studies found that CAD, CASKIN1, and GOLGA8J were candidate genes for epilepsy. FRG1 and DUX4 variations were associated with facioscapulohumeral muscular dystrophy. The expression of ZBTB17 and GDF was high in nervous system, and variations in these genes might be correlated to autism and epilepsy.

Conclusion:

Not all the genes presumed to cause ASD and epilepsy in this study were previously identified, suggesting that more genes were suspected of being involved in ASD and epilepsy co-occurrence.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Int J Health Sci (Qassim) Año: 2024 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación:
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Int J Health Sci (Qassim) Año: 2024 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: