Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
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.
Vargas-Poussou
R
R
INSERM U423, Necker Hospital, University Paris 5, Paris, France.
Feldmann
D
D
Vollmer
M
M
Konrad
M
M
Kelly
L
L
van den Heuvel
L P
LP
Tebourbi
L
L
Brandis
M
M
Karolyi
L
L
Hebert
S C
SC
Lemmink
H H
HH
Deschênes
G
G
Hildebrandt
F
F
Seyberth
H W
HW
Guay-Woodford
L M
LM
Knoers
N V
NV
Antignac
C
C
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
D002352:Carrier Proteins; D002712:Chlorides; D028021:Sodium-Potassium-Chloride Symporters; D012964:Sodium; D011188:Potassium