JBCGenetics |

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

Pubmed Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares. Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBC Genetics. 2021; 24 (July 2021): 70-75. doi:10.24911/JBCGenetics/183-1614266028

Web Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares. Genetic carrier screening for disorders included in newborn screening in the Saudi population. https://www.jbcgenetics.com/articles/2134 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1614266028

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares. Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBC Genetics. (2021), [cited April 27, 2025]; 24 (July 2021): 70-75. doi:10.24911/JBCGenetics/183-1614266028

Harvard Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares (2021) Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBC Genetics, 24 (July 2021): 70-75. doi:10.24911/JBCGenetics/183-1614266028

Chicago Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares. "Genetic carrier screening for disorders included in newborn screening in the Saudi population." 24 (2021), 70-75. doi:10.24911/JBCGenetics/183-1614266028

MLA (The Modern Language Association) Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares. "Genetic carrier screening for disorders included in newborn screening in the Saudi population." 24.July 2021 (2021), 70-75. Print. doi:10.24911/JBCGenetics/183-1614266028

APA (American Psychological Association) Style

Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares (2021) Genetic carrier screening for disorders included in newborn screening in the Saudi population. , 24 (July 2021), 70-75. doi:10.24911/JBCGenetics/183-1614266028