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. 2018 Sep 13;13(9):e0203905. doi: 10.1371/journal.pone.0203905

Fig 2. Family pedigree, mutation analysis and nephrin immunostaining.

Fig 2

(A) Pedigree depicting the proband (P, solid arrow) as a compound heterozygote for inherited A419T and C623F mutations in NPHS1. The parents are obligate carriers of each mutation, and the sibling is mutation negative. (B) Functional consequences of A419T and C623F were assessed using protein structure prediction algorithms SIFT (Sorting Intolerant From Tolerant) and PolyPhen (Polymorphism Phenotyping). (C) Schematic representation of nephrin protein and location of mutations under investigation. (D) Immunoperoxidase staining for nephrin in renal biopsies taken from normal control 16-year-old, and the proband at 16 years of age. Compared to the normal control, the proband’s biopsy shows incomplete staining of nephrin along the GBM, with positive staining for nephrin within the podocyte cell bodies. D: original magnification x600. CNS, congenital nephrotic syndrome; IgAN, IgA nephropathy.