title: A second family with XLRH displays the mutation S244L in the CLCN5 gene.
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.
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, France.
authors.forename: C
authors.initials: C
authors.lastname: Oudet
authors.forename: D
authors.initials: D
authors.lastname: Martin-Coignard
authors.forename: S
authors.initials: S
authors.lastname: Pannetier
authors.forename: E
authors.initials: E
authors.lastname: Praud
authors.forename: G
authors.initials: G
authors.lastname: Champion
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels