Table 1.

Individuals who have NPHP and carry three mutations in two different NPHP genesa

Family, IndividualEthnic OriginESRD (yr)bExtrarenal ManifestationsNPHP1NPHP3NPHP4
Nucleotide Alterations, SegregationcEffect on Coding SequencedNucleotide Alterations, SegregationcEffect on Coding SequencedNucleotide Alterations, SegregationcEffect on Coding Sequenced
F9, II-1Germany7NDDeletion, HeDeletion, HC1189T, h (P)R397C (Dr)
F9, II-2Germany11NDDeletion, HeDeletion, HC1189T, h (P)R397C (Dr)
F194, II-1Germany31RPC1756T, HeR586XG154A, hA52T (Hs)
F906, II-2Russia13RPDeletion, HeDeletion, HA1157G, hN386S (Xl)
F1114, II-1Hungary9RPDeletion, HeDeletion, HC1532T, h (P)P511L (Mm)
F1114, II-2Hungary17RPDeletion, HeDeletion, H
A11, II-1France3LF435–438delAAGT, h (M)efsX1483364–3367delACTG, h (P)fsX1144
IVS24–1G→C, h (P)Splice defect
F24, II-1GermanyNDNDC362G, h (M)T121R (Mm)IVS16–1 G→C, h (M) G2260A, h (P)Splice site G754R (Mm)
F24, II-2Germany14NDIVS16–1 G→C, h (M) G2260A, h (P)eSplice site G754R (Mm)
  • a All mutations were absent from >96 healthy control subjects. fs, frameshift; H, homozygous; h, heterozygous; IVS, intervening sequence; M, maternal; ND, no data available; P, paternal; RP, retinitis pigmentosa.

  • b Age of onset of ESRD.

  • c No specification of M or P if parent DNA not available for mutational analysis.

  • d Species dating back farthest in evolution, in which the amino acid residue of the wild type allele is conserved: Xl, Xenopus laevis; Dr, Danio rerio; Mm, Mus musculus; Hs, Homo sapiens.

  • e Presence of two mutations in the same gene.