A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.

@article{Golbang2005ANK,
  title={A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.},
  author={Amir P. Golbang and Meena Murthy and Abbas Hamad and Che-Hsiung Liu and G. Jamie Cope and William van't Hoff and Alan W. Cuthbert and Kevin M O'Shaughnessy},
  journal={Hypertension},
  year={2005},
  volume={46 2},
  pages={295-300}
}
We identified a new kindred with the familial syndrome of hypertension and hyperkalemia (pseudohypoaldosteronism type II or Gordon's syndrome) containing an affected father and son. Mutation analysis confirmed a single heterozygous G to C substitution within exon 7 (1690G>C) that causes a missense mutation within the acidic motif of WNK4 (564D>H). We confirmed the function of this novel mutation by coexpressing it in Xenopus oocytes with either the NaCl cotransporter (NCCT) or the inwardly… CONTINUE READING
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