A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (original) (raw)

Nature Genetics volume 17, pages 149–153 (1997)Cite this article

Abstract

Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene, NPHP1, which extends over most of this common deletion. The 4.5–kb transcript encodes a protein with an SH3 domain, which is highly conserved throughout evolution. The 11–kb interval between the 3′ end of NPHP1 and an inverted repeat containing the distal deletion breakpoint was found to contain the first exon of a second gene, MALL. In patients with a hemizygous deletion of the NPH1 region, additional point mutations were found in NPH1 but not in MALL.

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Authors and Affiliations

  1. University Children's Hospital, Freiburg University, Freiburg, Germany
    Friedhelm Hildebrandt, Edgar Otto, Cornelia Rensing, Martin Vollmer, Jörn Adolphs, Helge Hanusch & Matthias Brandis
  2. Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hans Gerd Nothwang

Authors

  1. Friedhelm Hildebrandt
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  2. Edgar Otto
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  3. Cornelia Rensing
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  4. Hans Gerd Nothwang
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  5. Martin Vollmer
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  6. Jörn Adolphs
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  7. Helge Hanusch
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  8. Matthias Brandis
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Correspondence toFriedhelm Hildebrandt.

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Hildebrandt, F., Otto, E., Rensing, C. et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.Nat Genet 17, 149–153 (1997). https://doi.org/10.1038/ng1097-149

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