Original Article
JBCGenetics. 2021; 4(2): 70-75

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1614266028

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


© Copyright: Author(s)

Genetic carrier screening for disorders included in newborn screening in the Saudi population


Authors
Mariam Al Eissa
Department of Molecular Genetics, Public Health Laboratory, Public Health Authority, Riyadh, Saudi Arabia
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Taghrid Aloraini
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
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Lamia Alsubaie
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Abdulrahman Alswaid
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Wafaa Eyiad
Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Fuad Al Mutairi
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Faroug Ababneh
Department of Genetics and Precision Medicine (GPM), King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
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Majid Alfadhel
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Ahmed Alfares
Department of Genetics and Precision Medicine (GPM), King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
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Correspondence to:
. Ahmed Alfares, Qassim University, Department of Pediatrics, Almulyda, Saudi Arabia.; fars@qu.edu.sa

Publication history
Received 25 Feb 2021
Revised 12 May 2021
Accepted 22 May 2021
Published online 24 Jul 2021
Published in print 28 Aug 2021

How to cite this article

Pubmed Style

Eissa MA, Aloraini T, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBCGenetics. 2021; 4(2): 70-75. doi:10.24911/JBCGenetics/183-1614266028


Web Style

Eissa MA, Aloraini T, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Genetic carrier screening for disorders included in newborn screening in the Saudi population. https://www.jbcgenetics.com//?mno=59134 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1614266028


AMA (American Medical Association) Style

Eissa MA, Aloraini T, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBCGenetics. 2021; 4(2): 70-75. doi:10.24911/JBCGenetics/183-1614266028


Vancouver/ICMJE Style

Eissa MA, Aloraini T, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBCGenetics. (2021), [cited December 08, 2021]; 4(2): 70-75. doi:10.24911/JBCGenetics/183-1614266028


Harvard Style

Eissa, M. A., Aloraini, . T., Alsubaie, . L., Alswaid, . A., Eyiad, . W., Mutairi, . F. A., Ababneh, . F., Alfadhel, . M. & Alfares, . A. (2021) Genetic carrier screening for disorders included in newborn screening in the Saudi population. JBCGenetics, 4 (2), 70-75. doi:10.24911/JBCGenetics/183-1614266028


Turabian Style

Eissa, Mariam Al, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed Alfares. 2021. Genetic carrier screening for disorders included in newborn screening in the Saudi population. Journal of Biochemical and Clinical Genetics, 4 (2), 70-75. doi:10.24911/JBCGenetics/183-1614266028


Chicago Style

Eissa, Mariam Al, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed Alfares. "Genetic carrier screening for disorders included in newborn screening in the Saudi population." Journal of Biochemical and Clinical Genetics 4 (2021), 70-75. doi:10.24911/JBCGenetics/183-1614266028


MLA (The Modern Language Association) Style

Eissa, Mariam Al, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed Alfares. "Genetic carrier screening for disorders included in newborn screening in the Saudi population." Journal of Biochemical and Clinical Genetics 4.2 (2021), 70-75. Print. doi:10.24911/JBCGenetics/183-1614266028


APA (American Psychological Association) Style

Eissa, M. A., Aloraini, . T., Alsubaie, . L., Alswaid, . A., Eyiad, . W., Mutairi, . F. A., Ababneh, . F., Alfadhel, . M. & Alfares, . A. (2021) Genetic carrier screening for disorders included in newborn screening in the Saudi population. Journal of Biochemical and Clinical Genetics, 4 (2), 70-75. doi:10.24911/JBCGenetics/183-1614266028


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