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Gene Review

NPHP3  -  nephronophthisis 3 (adolescent)

Homo sapiens

Synonyms: CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, ...
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Disease relevance of NPHP3

  • Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis [1].
  • KIAA0678 was considered a good functional candidate gene for NPH3 and SLS3, because molecular cha- perones are involved in the etiology of renal and retinal diseases [2].

High impact information on NPHP3

  • We describe mutations in NPHP3 in families with isolated NPHP and in families with NPHP with associated hepatic fibrosis or tapeto-retinal degeneration [1].
  • Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone, suggesting therapeutic strategies for treating individuals with NPHP3 [1].
  • Three loci are associated with the juvenile, infantile and adolescent forms, on chromosomes 2q13 (NPHP1; refs 5,6), 9q22 (NPHP2; ref. 7) and 3q21 (NPHP3; ref. 8), respectively [3].
  • By fluorescence in situ hybridization the chromosomal assignment of NPHP3 to chromosome 3q21-q22 was refined [4].
  • In the current study, the NPHP3 genetic region was cloned and seven genes, eight expressed sequence-tagged sites, and seven microsatellites were physically localized within the critical disease interval [4].

Biological context of NPHP3

  • We carried out haplotype analysis of families affected with nephronophthisis that were not linked to the NPHP1, NPHP2 or NPHP3 loci, using markers covering this region [3].
  • By human-mouse synteny analysis based on expressed genes, synteny between the human NPHP3 locus on chromosome 3q and the pcy locus on mouse chromosome 9 was clearly demonstrated, thus providing the first evidence of synteny between a human and a spontaneous murine renal cystic disease [4].
  • CONCLUSION: Four NPH-families were neither linked to NPHP1 nor to NPHP3, indicating further genetic heterogeneity within the group of nephronophthisis [5].

Other interactions of NPHP3

  • Here we report the identification of NPHP3, encoding a novel 1,330-amino acid protein that interacts with nephrocystin [1].
  • Affected individuals of two NPH3 families and one SLS family with haplotypes indicative for homozygosity by descent for the NPHP3/SLSN3 locus were studied [2].


  1. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Olbrich, H., Fliegauf, M., Hoefele, J., Kispert, A., Otto, E., Volz, A., Wolf, M.T., Sasmaz, G., Trauer, U., Reinhardt, R., Sudbrak, R., Antignac, C., Gretz, N., Walz, G., Schermer, B., Benzing, T., Hildebrandt, F., Omran, H. Nat. Genet. (2003) [Pubmed]
  2. Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3. Volz, A., Melkaoui, R., Hildebrandt, F., Omran, H. Cytogenet. Genome Res. (2002) [Pubmed]
  3. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C., Saunier, S. Nat. Genet. (2002) [Pubmed]
  4. Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. Omran, H., Häffner, K., Burth, S., Fernandez, C., Fargier, B., Villaquiran, A., Nothwang, H.G., Schnittger, S., Lehrach, H., Woo, D., Brandis, M., Sudbrak, R., Hildebrandt, F. J. Am. Soc. Nephrol. (2001) [Pubmed]
  5. Evidence for further genetic heterogeneity in nephronophthisis. Omran, H., Häffner, K., Burth, S., Ala-Mello, S., Antignac, C., Hildebrandt, F. Nephrol. Dial. Transplant. (2001) [Pubmed]
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