title: Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
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.
authors.affiliation: INSERM U423, Necker Hospital, University Paris 5, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Vargas-Poussou
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: M
authors.initials: M
authors.lastname: Vollmer
authors.forename: M
authors.initials: M
authors.lastname: Konrad
authors.forename: L
authors.initials: L
authors.lastname: Kelly
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: L
authors.initials: L
authors.lastname: Tebourbi
authors.forename: M
authors.initials: M
authors.lastname: Brandis
authors.forename: L
authors.initials: L
authors.lastname: Karolyi
authors.forename: S C
authors.initials: SC
authors.lastname: Hebert
authors.forename: H H
authors.initials: HH
authors.lastname: Lemmink
authors.forename: G
authors.initials: G
authors.lastname: Deschênes
authors.forename: F
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: H W
authors.initials: HW
authors.lastname: Seyberth
authors.forename: L M
authors.initials: LM
authors.lastname: Guay-Woodford
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001477:Bartter Syndrome / Q000235:genetics*; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002712:Chlorides; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011188:Potassium; D011487:Protein Conformation; D017386:Sequence Homology, Amino Acid; D012964:Sodium; D028021:Sodium-Potassium-Chloride Symporters
chemical_list: D002352:Carrier Proteins; D002712:Chlorides; D028021:Sodium-Potassium-Chloride Symporters; D012964:Sodium; D011188:Potassium