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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 [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]

1997; Oxford University Press; Volume: 6; Issue: 1 Linguagem: Inglês

10.1093/hmg/6.1.17

1460-2083

Lothar Károlyi, Martin Konrad, Arnold Köckerling, Andreas Ziegler, D Zimmermann, Bernd Roth, Christian Wieg, Karl‐Heinz Grzeschik, Manuela C. Koch, Hannsjörg W. Seyberth, Rosa Vargas, Lionel Forestier, G Jean, M Deschaux, Gian Franco Rizzoni, Patrick Niaudet, Corinne Antignac, Delphine Feldmann, Frederique Lorridon, Emmanuel Cougoureux, Jean-Luc Alessandri, Louis David, Pascal Saunier, Georges Deschênes, Friedhelm Hildebrandt, Martin Vollmer, Willem Proesmans, M. Brandis, Lambertus P. van den Heuvel, Henny H. Lemmink, Willy M. Nillesen, L.A.H. Monnens, Nine Knoers, Lisa M. Guay‐Woodford, Christopher J. Wright, Gilbert Madrigal, Steven Hébert,

Magnesium in Health and Disease

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.