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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Jun;62(6):1332–1340. doi: 10.1086/301872

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

R Vargas-Poussou 1, D Feldmann 1, M Vollmer 1, M Konrad 1, L Kelly 1, L P van den Heuvel 1, L Tebourbi 1, M Brandis 1, L Karolyi 1, S C Hebert 1, H H Lemmink 1, G Deschênes 1, F Hildebrandt 1, H W Seyberth 1, L M Guay-Woodford 1, N V Knoers 1, C Antignac 1
PMCID: PMC1377151  PMID: 9585600

Abstract

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.

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Selected References

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