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Indian Journal of Pharmaceutical Education and ResearchAn Official Publication of Association of Pharmaceutical Teachers of India (APTI)
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Detection of Novel Candidate Mutations as a Cause of Steroid-resistant Nephrotic Syndrome in Children Using Next-generation Sequencing Techniques

1,2, 1,2, 3, 3, 1,2, 4, 5, 6, 7, 2,8

  1. 1Department of Clinical Laboratories Sciences, The faculty of Applied Medical Sciences, Taif University, Taif, SAUDI ARABIA.
  2. 2Centre of Biomedical Sciences Research (CBSR), Deanship of Scientific Research, Taif University, Taif, SAUDI ARABIA.
  3. 3King Faisal Specialist Hospital and Research Center-Jeddah (KFSHRC-J), Jeddah, SAUDI ARABIA.
  4. 4Department of Chemistry, College of Science, Taif University, Taif, SAUDI ARABIA.
  5. 5Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences in Rabigh, King Abdulaziz University, Jeddah, SAUDI ARABIA.
  6. 6Department of Pharmacy Practice, College of Pharmacy, AlMaarefa University, Dariyah, Riyadh, SAUDI ARABIA.
  7. 7Department of Pharmaceutics, Vidya Siri College of Pharmacy, Off Sarjapura Road, Bangalore, Karnataka, INDIA.
  8. 8Department of Biology, College of Science, Taif University, Taif, SAUDI ARABIA.

CORRESPONDENCE

Syed Mohammed Basheeruddin Asdaq

Department of Pharmacy Practice, College of Pharmacy, AlMaarefa University, Dariyah, Riyadh, SAUDI ARABIA.

sasdaq@gmail.com

Received: 12-06-2022; Accepted: 11-07-2022.

Volume 56, Issue 4 · pp. 1134-1140 · 2022 · DOI: 10.5530/ijper.56.4.171

ABSTRACT

Background and Objectives: Steroid-resistant nephrotic syndrome (SRNS) is a serious chronic ailment that affects children and causes blood coagulation issues as well as an increased vulnerability to infections. Only around 10% of inherited genetic nephrotic syndrome cases are responding to steroid therapy, and, accordingly, 90% of SRNS patients have multidrug resistance. This study was done to detect novel candidate mutations as a factor for causing SRNS in children using the sequencing technique.Materials and Methods: This study included nine children ranging in age from one to sixteen years old who had a clinical diagnosis of SRNS. Phenotype-genotype correlations in these Saudi children were explored using next-generation sequencing techniques to assess the correlation and/or effect of mutations in multiple genes on phenotype variability. The enrichment analysis was carried out to identify genes.Results: Five genes were potentially new causative agents for SRNS. The enrichment analysis helped us identify nine causal genes, not previously reported, in six out of nine individuals (66%). These genes are phospholipase D family member 3, mitogen-activated protein kinase binding protein 1, solute carrier family 12 members 3, ezrin, and pancreatic lipase related protein. The other four nominee genes were wilms tumor 1, diacylglycerol kinase iota, coenzyme Q8B, and CASC3.Conclusion: The outcome of the study indicated that there is a new mutation as we had four replicates for each sample run on a different sequencing lane. The histopathological findings of these mutated patients were focal segmental glomerulosclerosis.

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    Alsanie, W. F., Alamri, A. S., Sobahy, T. M., Zailaie, S. A., Alhomrani, M., Refat, M. S., Habeeballah, H., Asdaq, S. M. B., Sreeharsha, N., & Gaber, A. (2022). Detection of Novel Candidate Mutations as a Cause of Steroid-resistant Nephrotic Syndrome in Children Using Next-generation Sequencing Techniques. Indian Journal of Pharmaceutical Education and Research, 56(4), 1134-1140. https://doi.org/10.5530/ijper.56.4.171

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    © 2022 Author(s)

    This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited. CC BY 4.0