A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance.

Abstract excerpt

Mutations in the gene encoding the renal epithelial K(+) channel ROMK1 (Kir 1.1) is one of the causes for Bartter's syndrome, an autosomal recessive disease. It results in defective renal tubular transport in the thick ascending limb of the loop of Henle that leads to hypokalemic metabolic alkalosis and loss of salt. Two novel ROMK1 mutations, L220F/A156V, have been described recently in a compound heterozygote...

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