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


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.

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Received: 19 October 1996 / Revised: 2 January 1997

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Oudet, C., Martin-Coignard, D., Pannetier, S. et al. A second family with XLRH displays the mutation S244L in the CLCN5 gene. Hum Genet 99, 781–784 (1997).

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  • Missense Mutation
  • Rickets
  • Nephrolithiasis
  • Nephrocalcinosis
  • Mild Phenotype