A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

@article{Mller2003ANC,
  title={A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.},
  author={Dominik N M{\"u}ller and P. Jaya Kausalya and Felix Claverie-Martin and Iwan C. Meij and Paul Eggert and V{\'i}ctor Manuel Garc{\'i}a-Nieto and Walter Hunziker},
  journal={American journal of human genetics},
  year={2003},
  volume={73 6},
  pages={1293-301}
}
Mutations in the gene coding for the renal tight junction protein claudin 16 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, an autosomal recessive disorder of renal Ca(2+) and Mg(2+) handling that progressively leads to chronic renal failure, with nephrolithiasis having been reported in heterozygous carriers. Screening a cohort of 11 families with idiopathic hypercalciuria identified a novel homozygous mutation in the claudin 16 gene in two families. In contrast to… CONTINUE READING

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