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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

Nature Genetics volume 3, pages 342–345 (1993)Cite this article

Abstract

Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage renal failure in children. NPH is frequently (16% of cases) associated with Leber amaurosis (termed Senior-Løken syndrome, SLS). Linkage analyses, performed in 22 multiplex NPH families (18 without and 4 with ocular abnormalities), have localized the gene to a region between D2S48 and D2S51 on chromosome 2p. This was confirmed using adjacent microsatellite markers, one of which (AFM220ze3 at the D2S160 locus) gave a lod score of 4.78 at Θ = 0.05 in the 18 families with isolated NPH, whereas the same marker excluded linkage with SLS. These results demonstrate linkage of the purely renal form of NPH to chromosome 2p, and suggest that there may be genetic heterogeneity between NPH and SLS.

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Authors and Affiliations

  1. CEPH, 27 rue Juliette Dodu, 75010, Paris, France

    Corinne Antignac, Jacques S. Beckmann, France Benessy, Françoise Gros & Daniel Cohen

  2. INSERM U192, Hôpital Necker-Enfants Malades, 75743, Paris, Cedex 15, France

    Corinne Antignac, Christine H. Arduy, France Benessy, Françoise Gros, Monia Medhioub, Claire Kleinknecht, Michel Broyer & Renée Habib

  3. Universitätskinderklinik, Mathildenstrasse 1, Freiburg, Germany

    Friedhelm Hildebrandt

  4. Service d'Ophtalmologie, Hôpital Necker-Enfants Malades, 75743, Paris, Cedex 15, France

    Jean-Louis Dufier

  5. Généthon, 1 rue de l'Internationale, 91002, Evry, France

    Jean Weissenbach

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  1. Corinne Antignac
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Antignac, C., Arduy, C., Beckmann, J. et al. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3, 342–345 (1993). https://doi.org/10.1038/ng0493-342

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