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Table 1 Clinical data of SRNS patients with NPHS2 and NPHS1 alterations

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

Patient number Gender Sporadic/ familiala Age at onset (years) Renal Biopsyb Age of onset to CKD - V (Yes/No)c Age of transplant (Yes/No) NPHS2
Nucleotide change Effect on coding Ref.
(years) (years)
Steroid Resistant cases with two NPHS2 heterozygous alterations
P6 F spo 12 FSGS Yes/15 Yes/15 c.686G > A p.Arg229Gln [37]
c.851C > T p.Ala284Val [10]
P67 F spo 2.2 DMP No No c.686G > A p.Arg229Gln [37]
c.928G > A p.Glu310Lys [38]
P103 F fam 1.2 FSGS No No c.714delG p.Lis239Argfs*13 ps
c.779 T > A p.Val260Glu [12]
P154 M fam 13 FSGS No No c.686G > A p.Arg229Gln [37]
c.851C > T p.Ala284Val [10]
Steroid Resistant cases with one NPHS2 heterozygous alteration
P111 F spo 3 FSGS No No c.-164C > T - ps
P68 M spo 4 CO No No c.-196C > G - ps
P85 M spo 6.11 CO Yes/8 Yes c.-537_-531delCTTTTTT - [40]
P72 M fam 16 FSGS Yes/18 Yes/18 c.686G > A p.Arg229Gln [37]
  1. aSpo: sporadic; Fam: familial;bFSGS:focal segmental glomerular sclerosis; DMP: diffuse mesangial proliferation; CO: complex = minimal change disease or diffuse mesangial proliferation or focal segmental glomerular sclerosis; CKD: cchronic kidney disease; n.a.: not analyzed; nd: not determined