1ABDOUSS Fatima,2AHAKOUD Mohamed,3BOUGUENOUCH Laila,4SOUILMI Fatima Zohra,5OULDIM Karim
1Biomedical and Translational Research Laboratory. Faculty of Medicine and Pharmacy. Sidi Mohamed Ben Abdellah University.
1,2,3,5Medical Genetics and Onco-genetics Laboratory. Central Laboratory of Medical Analysis. Hospital University Hassan II. Fez
4Nephro-pediatric Department. Mother and Child Hospital. Hospital University Hassan II. Fez
DOI : https://doi.org/10.47191/ijmra/v4-i11-13Google Scholar Download Pdf
ABSTRACT:
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.
KeywordsSRNS, NPHS2, p.R138Q, p.R229Q, FSGS
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VOLUME 04 ISSUE 11 NOVEMBER 2021
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