Background and Objective: Nephrotic syndrome (NS) is the most well-known glomerular kidney disease in children. Genetic risk is highly frequently detected amongst childhood steroid-resistant NS (SRNS) disease. Therefore, the aim of the present research was to evaluate ACTN4 and PLCE1 genes mutations in children with SRNS in western region of Saudi Arabia. Materials and Methods: Twenty SRNS patients were identified and screened for gene mutations within ACTN4 (21 exons) and PLCE1 (33 exons) genes by direct sequencing method to elucidate the correlation between these genes and SRNS. Results: Three novel heterozygous missense mutations were detected in ACTN4 gene in 3 patients. The renal biopsy findings for the 3 patients were focal segmental glomerulosclerosis. The in-silico analysis for these mutations propose that they are deleterious. In case of PLCE1 gene, 2 missense mutations were detected in exons 24 and 26. These mutations were found previously as non-disease-causing mutations. Conclusion: ACTN4 is a significant causative gene mutation of FSGS in Saudi children patients with SRNS But causative mutations in PLCE1 gene can not identified.
Ahmed Gaber, Abdulla A. Alharthi, Mohamed M. Hassan, Ehab I. El-Hallous, Mohamed W. Abukhatwah, Abeer M. Almalki, Abdullah A. Muzallef, Saqer Alotaibi, Bandar Aljuaid and Walaa F. Alsanie, 2020. Screening of ACTN4 and PLCE1 Genes Mutations in Saudi Children Patients with Steroid Resistant Nephrotic Syndrome. Pakistan Journal of Biological Sciences, 23: 365-374.