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)
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
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: October 02, 2022]. doi:10.24911/JBCGenetics/183-1614266028
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
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 October 02, 2022]; 4(2): 70-75. doi:10.24911/JBCGenetics/183-1614266028
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
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
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
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
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