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


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Article Info

DATE

1993-04

AUTHORS

Corinne Antignac, Christine H. Arduy, Jacques S. Beckmann, France Benessy, Françoise Gros, Monia Medhioub, Friedhelm Hildebrandt, Jean-Louis Dufier, Claire Kleinknecht, Michel Broyer, Jean Weissenbach, Renée Habib, Daniel Cohen

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. More... »

PAGES

342-345

References to SciGraph publications

  • 1992-10. A second-generation linkage map of the human genome in NATURE
  • 1982-01. The nephronophthisis complex in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0493-342

    DOI

    http://dx.doi.org/10.1038/ng0493-342

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1047339817

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/7981755


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