Table 1. Clinical data for patients with mutations and sequence variations in NPHS2a

GroupFamily-IndividualGenderMutation (Amino Acid Exchange)Age of Onset (yr)Initial SymptomsBiopsySteroid TherapyCP/CsA TherapyESRD (yr after Onset)KTx (yr after Onset)Relapse of FSGS after KTx
a Group A, patients with steroid-resistant nephrotic syndrome (NS) (SRNS) and mutations in both alleles of NPHS2; P-AS, intermittent low-grade proteinuria progressing to acute NS; AR, acute rejection; AS, acute symptoms of NS; group B, patients with SRNS, mutations in both alleles of NPHS2, and CNS; group C, patients with SRNS and a single heterozygous sequence variant; CNS, histology of congenital NS; CP, cyclophosphamide; CR, chronic rejection; CsA, cyclosporine A; group D, patients with steroid-sensitive NS (SSNS) and a single heterozygous sequence variant; DMS, diffuse mesangial sclerosis; (h), heterozygous; (H) homozygous; IgM, IgM nephropathy; KTx, kidney transplantation; MCNS, minimal-change glomerulonephritis; MP, mesangioproliferative glomerulonephritis; N, no; (N), no remission; ND, not done; P, intermittent low grade-proteinuria; (P), partial remission; (R), complete remission; SS, steroid-sensitive; SS-SR, steroid-sensitive progressing to steroid-resistant; SR, steroid-resistant; Y, yes; ?, no data.
b Mutations for these patients were previously reported ((14)).
A236-1bFG413A/R138Q (H)2.5ASFSGSSRNDY (11.4)Y (13.5)N (3.7)
A260-1bMG413A/R138Q (H)4.3AS?SRCP (N)Y (4.9)Y (5.0)N (10)
A260-2bMG413A/R138Q (H)1.0AS?SRCP (N)Y (7.2)Y (8.6)N (10)
A330-1bFG686A/R229Q (h)-C871T/R291W (h)3.5?FSGSSRCsA (P)Y (21.2)NN
A330-2bMG686A/R229Q (h)-C871T/R291W (h)3.0ASFSGSSRNDY (14.8)Y (17.7)AR (0.0)
A348-1bMG413A/R138Q (H)3.3ASFSGSSRNDN
A348-2bMG413A/R138Q (H)2.0ASFSGSSRNDY (?)Y (13, 36)CR (22.0)
A370-1bMG686A/R229Q (h)-C851T/A284V (h)24.0P-ASFSGSSRCsA + CP (N)N (3)NN
A370-2bFG686A/R229Q (h)-C851T/A284V (h)9.0P-ASFSGSSRNDN (8.0)NN
A398-1bFG413A/R138Q (H)2.8ASFSGSSRCsA (N)Y (2.6)Y (3.3)N (6.7)
A460-1bFG413A/R138Q (H)2.5ASMCNSNDNDY (8.5)Y (9.7)N (2.9)
A460-2bMG413A/R138Q (H)5.4ASMCNSSRCP (N)Y (5.7)Y (6.4)N (6.4)
A489-1bMG686A/R229Q (h)-C851T/A284V (h)11.8ASFSGSSRCsA (N)N (4.4)NN
A489-2bFG686A/R229Q (h)-C851T/A284V (h)3.5ASFSGSSRCsA (N)Y (7.1)NN
A747-1bMG413A/R138Q (H)1.8ASFSGSSRNDY (2.0)Y (3.1)N (3.7)
A747-2bMG413A/R138Q (H)3.8ASFSGSSRCsA (P)N (2.0)NN
A763bFG538A/V180M (H)16.6ASFSGSSRCsA (?)Y (3.5)NN
A764bFG413A/R138Q (H)?ASMCNSSRCsA (P)Y (?)NN
A789bMIVS4-1G>T (H)5.0ASFSGSSRCsA (?)N (0.5)NN
A803bFC851T/A284V (H)2.0ASFSGSSRNDY (8.0)Y (8.8)N (1.1)
A833bFdel AA 855/56/S302X (H)9.1ASMCNSSRCsA + CP (N)Y (1.6)Y (3.4)N (7.7)
A836bFG587C/R196P (h)-G868A/V290M (h)1.3ASFSGSSRCsA (N)N (10.1)NN
A861FG868A-V290M(h)-del T 948/L347X (h)2.2P-ASFSGSSRCsA (P)N (13.8)NN
A873MG770A/G257E(H)0.3P-ASMCNSNDNDN (0.5)NN
A888MG413A/R138Q (h)-IVS7+2T>A (h)3.5ASFSGSSR?N (1.4)NN
A911FG686A/R229Q (h)-A929T/E310V (h)4.0ASFSGSSRCsA (N), CP (N)Y (7.9)Y (8.3)N (1.5)
A975-1MG413A/R138Q (H)4.3ASFSGSSRCP (N)Y (1.5)Y (4.1)N (5.7)
A975-2MG413A/R138Q (H)1.5ASFSGSSRNDY (9.7)N
A1005FG413A/R138Q (h)-IVS3+2T>A (h)3.4ASMCNSSRCsA (N)Y (4.0)Y (7.8)N (1.5)
A1006MG413A/R138Q (h)-G503A/R168H (h)4.9?FSGSSR?Y (6.2)Y (8.5)N (3.4)
A1023MG413A/R138Q (h)-ins T 460–467/V165X (h)1.5ASFSGSSRCsA (N)Y (6.0)Y (7.5)N (4.3)
A1030FG413A/R138Q (H)0.7ASFSGSSRCP (N)Y (9.3)Y (13.1, 19.1)N (CR6, ?)
A1032FG413A/R138Q (h)-G868A/V290M (h)11.0PIgMNDNDN (2.7)NN
A1033MG413A/R138Q (H)0.5ASNDNDNDN (1.2)NN
A1041Fins A 29/E69X (h)-G304A/E102K (h)2.2ASMPSRCP (N)N (2.5)NN
A1045Mins T 460–467/V165X (H)1.0ASFSGSSRCsA (N)Y (9.0)NN
A1059-1MC353T/P118L (H)2.0ASFSGSSRNDY (4.4)NN
A1069MG686A/R229Q (H)7.4ASFSGS?CP (N)Y (5.8)NN
A1077MT803G/V268G (H)3.5ASFSGSSRCP (N)N (0.5)NN
A1083FC353T/P118L (H)3.6ASDMSSRCP (N)Y (1.5)NN
A1139Fdel T 948/L347X (H)0.7ASFSGSSRCsA (N)Y (3.2)Y (3.6)Y (0.1)
A1173MG686A/R229Q (H)5.5ASFSGSSRCsA (N), CP (N)N (3.1)NN
B236-2bMG413A/R138Q (H)0.1ASFSGSSRNDY (9.4)Y (10.4)N (6.7)
B355-1bMG413A/R138Q (h)-ins T 460–467/V165X (h)0.0ASFSGSSRCsA (N)Y (5.7)Y (6.2)N (1.6)
B355-2bFG413A/R138Q (h)-ins T 460–467/V165X (h)0.0ASFSGSNDNDN (4.0)NN
B398-2bFG413A/R138Q (H)0.0ASFSGSSRCsA (N)Y (4.2)Y (5.0)N (3.0)
B515-1bMG413A/R138Q (h)-419 del G/V180X (h)0.0ASCNSSRNDY (?)Y (7.8)N (9.0)
B515-2bFG413A/R138Q (h)-419 del G/V180X (h)0.0ASNDSRNDY (?)Y (14.5)N (0.4)
B859bMG413A/R138Q (H)0.0PMCNSSRCsA (P)N (3.3)NN
B935Mins T 460–467/V165X (h)-T506C/L169P (h)0.0ASMCNSSRNDN (1)NN
B942-1MG413A/R138Q (h)-G503A/R168H (h)0.0???????
B942-2MG413A/R138Q (h)-G503A/R168H (h)0.0???????
B1028MC353T P118L (h)-G413A/R138Q (h)0.0ASMPNDNDN (6.4)NN
B1201Mins T 460–467/V165X (h)-C871T/R291W (h)0.0PFSGSSRCsA (N)N (7.3)NN
B1221MG378T/K126N (h)-del T 948/L347X (h)0.0ASFSGSNDNDY (6.2)Y (6.6)Y (?)
B1233FG413A/R138Q (h)-ins T 460–467/V165X (h)0.0ASFSGSSRNDN (2.9)NN
C376-1bMG413A/R138Q (h)4.0ASFSGSSRCsA (P)Y (8.0)NN
C376-2bMG413A/R138Q (h)7.0ASMCNSSRCsA (R)N (2.8)NN
C923MA983G/Q328R (h)??ND?????
C1086MG709C/E237Q (h)10.5ASMCNSSRCsA (R)NNN
C1104FC725T/A242V (h)1.6ASFSGSSRCP (R)N (1.4)NN
D3908MG709C/E237Q (h)5.7ASMCNSSSCsA (?)NNN
D3147MG413A/R138Q (h)3.2ASNDSSNDNNN
D1172FC871T/R291W (h)1.5ASFSGSSS-SRCsA (N)N (0.7)NN