Original Article
Volume: 4 | Issue: 2 | Published: Jul 24, 2021 | Pages: 70 - 75 | DOI: 10.24911/JBCGenetics/183-1614266028
Genetic carrier screening for disorders included in newborn screening in the Saudi population
Authors: Mariam Al Eissa , Taghrid Aloraini , Lamia Alsubaie , Abdulrahman Alswaid , Wafaa Eyiad , Fuad Al Mutairi , Faroug Ababneh , Majid Alfadhel , Ahmed Alfares
Article Info
Authors
Mariam Al Eissa
Department of Molecular Genetics, Public Health Laboratory, Public Health Authority, Riyadh, Saudi Arabia
Taghrid Aloraini
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
Lamia Alsubaie
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Abdulrahman Alswaid
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Wafaa Eyiad
Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Fuad Al Mutairi
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Faroug Ababneh
Department of Genetics and Precision Medicine (GPM), King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
Majid Alfadhel
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Ahmed Alfares
Department of Genetics and Precision Medicine (GPM), King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
Publication History
Received: February 25, 2021
Revised: May 12, 2021
Accepted: May 22, 2021
Published: July 24, 2021
Abstract
Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous marriages, play a role in the high rate of diseases. The government of Saudi Arabia created a newborn screening program (NBS) for the most prevalent disorders to facilitate early intervention and the prevention of severe complications. The study aimed to determine the carried pathogenic allele of the diseases included in the NBS and the most frequently carried phenotype in the Saudi population. Methodology: We performed targeted genetic screening for the genes associated with the IEM in the NBS. We used the results of the whole exome sequencing of 1,314 affected and unaffected individuals from 650 families. The results constitute the King Abdullah International Medical Research Center Genomic Database. Results: According to the data set, four diseases occurred most frequently in the Saudi population: adrenal hyperplasia, propionic acidemia, phenylketonuria, and maple syrup urine disease. In total, 12 pathogenic variants occurred frequently. Conclusion: This study generated an updated list of the most pathogenic variants in the Saudi population, based on the National Guard Hospital dataset. Additional research with larger data sets from the different regions will provide valuable information about the allele distribution in the Saudi population, creating a carrier screening program.
Keywords: Carrier screening, variants, Saudi population, exome sequencing, common genetic variation
