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Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing
Kidney International, 08/11/09

Grand T et al. – Dent's disease is an X–linked recessive disorder affecting the proximal tubules and is frequently associated with mutations in CLCN5, which encodes the electrogenic chloride–proton exchanger ClC–5. The type–II mutants (G179D, L200R, S203L, C219R, C221R, L469P, and R718X) were improperly N–glycosylated and were non–functional due to retention in the endoplasmic reticulum. Thus these mutations have distinct mechanisms by which they could impair ClC–5 function in Dent's disease.

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