Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndromeVargas-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 journal › Article › Academic › peer-review
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.
|Number of pages||9|
|Journal||American Journal of Human Genetics|
|Publication status||Published - Jun-1998|
- 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