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Vargas-Poussou, R. et al.

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.[1]

References

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Vargas-Poussou, R., Feldmann, D., Vollmer, M., Konrad, M., Kelly, L., van den Heuvel, L.P., Tebourbi, L., Brandis, M., Karolyi, L., Hebert, S.C., Lemmink, H.H., Deschênes, G., Hildebrandt, F., Seyberth, H.W., Guay-Woodford, L.M., Knoers, N.V., Antignac, C. Am. J. Hum. Genet. (1998) [Pubmed]

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