Published November 14, 2021 | Version v1
Journal article Open

p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome

Authors/Creators

  • 1. Biomedical and Translational Research Laboratory. Faculty of Medicine and Pharmacy. Sidi Mohamed Ben Abdellah University. Fez
  • 2. Medical Genetics and Onco-genetics Laboratory. Central Laboratory of Medical Analysis. Hospital University Hassan II. Fez
  • 3. Nephro-pediatric Department. Mother and Child Hospital. Hospital University Hassan II. Fez

Description

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mutation in European series. The p.R229Q (c.686G>A) variant in exon 5 is the first human variant discovered with a mutation-dependent pathogenicity. We aimed in this study to screen for the p.R138Q mutation and the p.R138Q variant in a Moroccan cohort with Steroid Resistant Nephrotic Syndrome.

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