Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. |
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Authors: | R Vargas-Poussou, D Feldmann, M Vollmer, M Konrad, L Kelly, L P van den Heuvel, L Tebourbi, M Brandis, L Karolyi, S C Hebert, H H Lemmink, G Deschê nes, F Hildebrandt, H W Seyberth, L M Guay-Woodford, N V Knoers, C Antignac |
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Affiliation: | R Vargas-Poussou, D Feldmann, M Vollmer, M Konrad, L Kelly, L P van den Heuvel, L Tebourbi, M Brandis, L Karolyi, S C Hebert, H H Lemmink, G Deschênes, F Hildebrandt, H W Seyberth, L M Guay-Woodford, N V Knoers, and C Antignac |
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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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Keywords: | Author Keywords: Bartter syndrome NKCC2 Mutation(s) Isoform(s) Alternative splicing |
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