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., Jun-1998, In : American Journal of Human Genetics. 62, 6, p. 1332-1340 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • 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
  • C Antignac

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.

Original languageEnglish
Pages (from-to)1332-1340
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - Jun-1998
Externally publishedYes


  • Amino Acid Sequence, Animals, Bartter Syndrome/genetics, Carrier Proteins/chemistry, Chlorides, Female, Fetal Diseases/genetics, Humans, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Potassium, Protein Conformation, Sequence Homology, Amino Acid, Sodium, Sodium-Potassium-Chloride Symporters

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