Detection of novel candidate mutations as a cause of steroid-resistant nephrotic syndrome in children using next-generation sequencing techniques
By: Alsanie, Walaa F
.
Contributor(s): Alamri, Abdulhakeem S.
Publisher: Bangalore Association of Pharmaceutical Teachers of India (APTI) 2022Edition: Vol.56(4), Oct_Dec.Description: 1134-1140p.Subject(s): PHARMACEUTICSOnline resources: Click here
In:
Indian journal of pharmaceutical education and researchSummary: 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.
| Item type | Current location | Call number | Status | Date due | Barcode | Item holds |
|---|---|---|---|---|---|---|
Articles Abstract Database
|
School of Pharmacy Archieval Section | Not for loan | 2023-0111 |
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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