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Human Genetics

, Volume 99, Issue 6, pp 781–784 | Cite as

A second family with XLRH displays the mutation S244L in the CLCN5 gene

  • C. Oudet
  • Dominique Martin-Coignard
  • Solange Pannetier
  • Elisabeth Praud
  • Gérard Champion
  • André Hanauer
Original investigation

Abstract

Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent’s disease. We report a missense mutation in exon 6 of the CLCN5 gene. The mutation in this pedigree is S244L, the same mutation as has previously been described in an Italian family showing a similar pathology. However, in the family reported here, affected males have developed neither nephrolithiasis nor nephrocalcinosis. The question arises whether we are dealing with a milder phenotype or whether a more severe pathology will develop with ageing.

Keywords

Missense Mutation Rickets Nephrolithiasis Nephrocalcinosis Mild Phenotype 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • C. Oudet
    • 1
  • Dominique Martin-Coignard
    • 2
  • Solange Pannetier
    • 1
  • Elisabeth Praud
    • 2
  • Gérard Champion
    • 3
  • André Hanauer
    • 1
  1. 1.Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 1 Rue Laurent Fries, BP163, F-67404 Illkirch Cedex, France Tel.: +33-3-88-653414; Fax: +33-3-88-653245FR
  2. 2.Centre Hospitalier du Mans, 194 Avenue Rubillard, F-72037 Le Mans Cedex, FranceFR
  3. 3.Centre Néonatal de la Maternité, Pédiatrie B, Centre Hospitalo-Universitaire d’Angers, F-49033 Angers Cedex 01, FranceFR

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