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VOLUME 04 ISSUE 11 NOVEMBER 2021

p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome
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-i11-13

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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.

Keywords

SRNS, NPHS2, p.R138Q, p.R229Q, FSGS

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VOLUME 04 ISSUE 11 NOVEMBER 2021

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