title: Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.
abstract: Inherited renal tubular disorders associated with hypokalemic alkalosis (Bartter-like syndromes) can be subdivided into at least three clinical phenotypes: (i) the hypocalciuric-hypomagnesemic Gitelman variant; (ii) the classic variant; and (iii) the antenatal hypercalciuric variant (also termed hyperprostaglandin E syndrome). Mutations in the Na-Cl cotransporter (NCCT) underlie the pathogenesis of the Gitelman variant and mutations in the Na-K-2Cl cotransporter (NKCC2) have recently been identified in the antenatal hypercalciuric variant. We now describe mutations in the gene encoding the inwardly-rectifying potassium channel, ROMK, in eight kindreds with the antenatal variant of Bartter syndrome. These findings indicate that antenatal Bartter syndrome is genetically heterogeneous and provide new insights into the molecular pathogenesis of Bartter-like syndromes.
mesh_terms: D000595:Amino Acid Sequence; D001477:Bartter Syndrome / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005796:Genes; D018740:Genetic Heterogeneity; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying
chemical_list: C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying