Human Genetics

, Volume 99, Issue 6, pp 781–784

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

DOI: 10.1007/s004390050448

Cite this article as:
Oudet, C., Martin-Coignard, D., Pannetier, S. et al. Hum Genet (1997) 99: 781. doi:10.1007/s004390050448

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.

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