Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, France.
Hum Genet. 1997 Jun;99(6):781-4. doi: 10.1007/s004390050448.
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.
CLCN5基因定位于Xp11.22，最近有报道称该基因突变与X连锁肾结石、X连锁隐性低磷性佝偻病和丹特病有关。我们报告了CLCN5基因外显子6中的一个错义突变。这个家系中的突变是S244L，与之前在一个表现出类似病理特征的意大利家系中描述的突变相同。然而，在本文报道的这个家系中，患病男性既没有发生肾结石，也没有发生肾钙质沉着症。问题出现了，我们面对的是一种较轻的表型，还是随着年龄增长会出现更严重的病理状况。
