Table 1.

Clinical data of patients who had SRNS and in whom NPHS1 mutations were identifieda

PatientGenderAge of Onset Pu (NS) (yr)BiopsyTherapyEvolutionMutation 1 SevereMutation 2 Mild
1420F0.25 (3.00)MCNSCS, CPNormal Cr at 14 yrc.609–2A→C (M)c.319G→A
p.A107T (P)
446F0.80 (0.80)MCNSCSESRF at 9 yrc.3720_3735del16c.1724C→A
p.L1240fs1286Xb (P)p.P575Q (M)
1075F0.50 (0.50)FSGSUnknownESRF at 13 yrc.1379G→Ac.2928G→T
p.R460Qb (?)p.R976S (?)
841F3.80 (3.80)FSGSCS, CsANormal Cr at 6 yrc.468C→Gc.2928G→T
p.Y156X (P)p.R976S (M)
466F0.25 (0.75)MCNSCS, CPNormal Cr at 10 yrc.2479C→Tc.2928G→T
p.R827X (M)p.R976S (P)
1167F3.10 (3.10)FSGSCS, CPESRF at 15 yrc.516delCc.2928G→T
p.T712fs175X (M)p.R976S (P)
693M8.00 (8.00)MCNSCSNormal Cr at 16 yrc.1134–1135delGCc.286C→G
p.R379fs417X (M)p.L96V (P)
1407F5.00 (5.00)MCNSCS, CPESRF at 25 yrc.516delCc.2928G→T
p.T712fs175X (M)p.R976S (P)
634M3.00 (3.00)MPUnknownESRF at 6 yrc.1491delCc.2072–6C→G (P)
p.S494fs547X (M)
771cF2.20 (2.80)MCNSCS, CsANormal Cr at 9 yrc.2495T→Cc.2928G→T
1462cM2.50 (2.50)Not performedNo treatmentNormal Cr at 6 yrp.L832P (P)p.R976S (M)
  • a CP, cyclophosphamide; Cr, creatinine; CS, corticosteroids; CsA, cyclosporin A; ESRF, end-stage renal failure; MCNS, minimal-change glomerulonephritis; MP, mesangioproliferative glomerulonephritis; Pu, proteinuria.

  • b This mutation may potentially be a “mild” one. Mode of transmission of mutant alleles are indicated in parentheses: M, maternal; P, paternal; ?, unknown.

  • c Siblings with the same parents.