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Fig. 1 | BMC Medical Genetics

Fig. 1

From: NPHS2 mutations account for only 15 % of nephrotic syndrome cases

Fig. 1

Schematic structure of NPHS2/podocin showing the position of alterations and patient’s heredograms. a Eight exons of NPHS2 gene and podocin illustration showing electropherograms of the three 5’ UTR variants, four missense mutations and the frameshift mutation in the corresponding exons/domains identified in five SRNS patients. TM = transmembrane domain; PHB = prohibitin domain. b Sporadic cases P6, P67 (first two boxes on the left) and family cases P103, P154 and P72 pedigrees. Black squares and circles represent patients with kidney disease. Arrow indicates the index case. Mutations are annotated below the individuals that had their NPHS2 or NPHS1 genes screened. P103 (II1) and her sister (II2) presented [p.Lys239Argfs*13 (;) p.Val260Glu] association. P154 (II4) and her two brothers (II5 and II6) presented the [p.Arg229Gln (;) p.Ala284Val] association

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