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  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., et al. (2003). Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nature Genetics, 34(4), 455-459. doi:10.1038/ng1216.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-89D8-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-89D9-0
Genre: Journal Article
Alternative Title : Nature Genet.

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 Creators:
Olbrich, Heike, Author
Fliegauf, Manfred, Author
Hoefele, Julia, Author
Kispert, Andreas, Author
Otto, Edgar, Author
Volz, Andreas, Author
Wolf, Matthias T., Author
Sasmaz, Gürsel, Author
Trauer, Ute1, Author
Reinhardt, Richard2, Author              
Sudbrak, Ralf3, Author              
Antignac, Corinne, Author
Gretz, Norbert, Author
Walz, Gerd, Author
Schermer, Bernhard, Author
Benzing, Thomas, Author
Hildebrandt, Friedhelm, Author
Omran, Heymut, Author
Affiliations:
1Max Planck Society, ou_persistent13              
2High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
3Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, is the most common genetic cause of progressive renal failure in children and young adults1. NPHP may be associated with Leber congenital amaurosis, tapeto-retinal degeneration, cerebellar ataxia, cone-shaped epiphyses, congenital oculomotor apraxia and hepatic fibrosis2-6. Loci associated with an infantile type of NPHP on 9q22–q31 (NPHP2), juvenile types of NPHP on chromosomes 2q12–q13 (NPHP1) and 1p36 (NPHP4) and an adolescent type of NPHP on 3q21–q22 (NPHP3) have been mapped7-10. NPHP1 and NPHP4 have been identified11-13, and interaction of the respective encoded proteins nephrocystin and nephrocystin-4 has been shown13. Here we report the identification of NPHP3, encoding a novel 1,330-amino acid protein that interacts with nephrocystin. We describe mutations in NPHP3 in families with isolated NPHP and in families with NPHP with associated hepatic fibrosis or tapeto-retinal degeneration. We show that the mouse ortholog Nphp3 is expressed in the node, kidney tubules, retina, respiratory epithelium, liver, biliary tract and neural tissues. In addition, we show that a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype14. Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone15-17, suggesting therapeutic strategies for treating individuals with NPHP3.

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Language(s): eng - English
 Dates: 2003-08
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 173903
ISI: 000184470500026
DOI: 10.1038/ng1216
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Title: Nature Genetics
  Alternative Title : Nature Genet.
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 34 (4) Sequence Number: - Start / End Page: 455 - 459 Identifier: ISSN: 1061-4036