A second family with XLRH displays the mutation S244L in the CLCN5 gene.
Hum Genet
; 99(6): 781-4, 1997 Jun.
Article
en En
| MEDLINE
| ID: mdl-9187673
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Canales de Cloruro
/
Hipofosfatemia Familiar
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Francia