Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1332-1340

  Vargas Poussou, Rosa ^a   Feldmann, Delphine ^b   Vollmer, Martin ^c   Konrad, Martin ^d   Kelly, Lisa ^e   Van Den Heuvel, Lambertus P W J ^f   Tebourbi, Lamia ^b   Brandis, Matthias ^c   Karolyi, Lothar ^d   Hebert, Steven C ^g   Lemmink, Henny H ^f   Deschênes, Georges ^b   Hildebrandt, Friedhelm ^c   Seyberth, Hannsjörg W ^d   Guay Woodford, Lisa M ^e   Knoers, Nine V A M ^f   Antignac, Corinne ^a,h  

^a INSERM   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITY OF FREIBURG   (Germany)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN;

ARTICLE; BARTTER SYNDROME; CLINICAL ARTICLE; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; HYDRAMNIOS; HYPERCALCIURIA; HYPOKALEMIC ALKALOSIS; KIDNEY CALCIFICATION; NUCLEOTIDE SEQUENCE; OSTEOPENIA; POLYURIA; PREMATURE LABOR; PRENATAL PERIOD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 17344369929     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301872     Document Type: Article

References (35)

1. Bartter FC, Pronove P, Gill JR, MacCardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 33:811-828
2. Desehenes G, Burguet A, Guyot C, Hubert P, Garabedian M, Déchaux M, Loirat C, et al (1993) Forme anténatale du syndrome de Bartter. Ann Pediatr 40:95-101
3. Fanconi A, Schachenmann G, Nussli R, Prader A (1971) Chronic hypokalemia with growth retardation, normotensive hyperrenin-hyperaldosteronism (Bartter's syndrome) and hypercalciuria. Helv Pediatr Acta 26:144-163
4. Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79:221-235
5. Good DW, Knepper MA, Burg MB (1984) Ammonia and bicarbonate transport by thick ascending limb of rat kidney. Am J Physiol 247:F35-F44
6. Greger R (1985) Ion transport mechanism in thick ascending limb of Henle's loop of mammalian nephron. Physiol Rev 65:760-797
7. Hiort O, Wedtke A, Zollmer A, Sinneckes G (1994) Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. Hum Mol Genet 3:1163-1166
8. Hogewind B, Van Brummelen P, Veltkamp J (1981) Bartter's syndrome: an autosomal recessive disorder? study of four patients in one generation of the same pedigree and their relatives. Acta Med Scand 209:463-467
9. Igarashi P, Vanden Heuvel GB, Payne JA, Forbush B (1995) Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter. Am J Physiol 269:F405-F418
10. International Collaborative Study Group for Bartter-Like Syndromes, The (1997) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 6:17-26
11. Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, et al (1996) Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 59:1221-1232
12. Knebelmann B, Deschenes G, Gros F, Hors M-C, Grünfeld J-P, Tryggvason K, Gubler M-C, et al (1992) Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 51:135-142
13. Köckerling A, Reinalter S, Seyberth H (1996) Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 129:519-528
14. Leonhardt A, Timmermanns G, Roth B, Seyberth H (1992) Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. J Pediatr 120:546-554
15. McCredie DA, Rotenberg E, Williams AL (1974) Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome. Aust Paediatr J 10:286-295
16. Ohlsson A, Sieck U, Cumming W, Akhtar M, Serenius F (1984) Bartter syndrome associated with hydramnios prematurity, hypercalciuria and nephrocalcinosis. Acta Pediatr Scand 73: 868-874
17. Orita M, Suzuki YH, Sakiya T, Hayaski K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
18. Payne JA, Forbush B (1994) Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney. Proc Natl Acad Sci USA 91:4544-4548
19. _ (1995) Molecular characterization of the epithelial Na-K-Cl cotransporter isoforms. Curr Opin Cell Biol 7: 493-503
20. Proesmans W, Devlieger H, Assche AV, Eggermont E, Vandenberghe K, Lemmens F, Sieprath P, et al (1985) Bartter syndrome in two siblings-antenatal and neonatal observations. Int J Pediatr Nephrol 6:63-70
21. Reed PW, Davies JL, Copeman JB, Bennet ST, Palmer SM, Pritchard LE, Gough SLC, et al (1994) Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet 7:390-395
22. Rozet JM, Gerber S, Perrault I, Camuzat A, Calvas P, Viegas-Pequinot E, Molina-Gomes D, et al (1996) Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). Genomics 36: 554-556
23. Schwartz I, Alon U (1996) Bartter syndrome revisited. J Nephrol 9:81-87
24. Seyberth HW, Königer SJ, Rascher W, Kühl PG, Schweer H (1987) Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr Nephrol 1:491-497
25. Seyberth HW, Rascher W, Schweer H, Kuhl P, Mehls O, Schärer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107: 694-701
26. Shizuya H, Birren B, Kim UJ, Mancino V, Splepak T, Tachiiri Y, Simon M (1992) Cloning and stable maintenance of 300-kb fragments of human DNA in Escherichia coli using F-factor-based vector. Proc Natl Acad Sci USA 89:8794-8797
27. Shoemaker L, Welch T, Bergstrom W, Abrams S, Yergey A, Vieira N (1993) Calcium kinetics in the hyperprostaglandin E syndrome. Pediatr Res 33:92-96
28. Simon D, Bindra RS, Mansfield TA, Nelson-Williams C, Mendoca E, Stone R, Schurman S, et al (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178
29. Simon D, Karet F, Hamdan J, DiPetro A, Sanjad S, Lifton R (1996a) Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183-188
30. + channel, ROMK. Nat Genet 14:152-156
31. Winters CJ, Reeves WB, Andreoli TE (1991) A survey of transport properties of the thick ascending limb. Semin Nephrol 11:236-247
32. Wippermann CF, Huber A, Beetz R, Baum V, Stopfkuchen H (1993) Polyhydramnios caused by fetal hyperprostaglandin E syndrome, a variant of Bartter's syndrome: case report and review of the literature. J Matern Fetal Invest 3:91-93
33. Yang T, Huang YG, Singh I, Schnermann J, Briggs JP (1996) Localization of bumetanide- and thiazide-sensitive Na-K-Cl cotransporters along the rat nephron. Am J Physiol 271: F931-F939
34. Zusman R, Keiser H (1977) Prostaglandin biosynthesis by rabbit renomedullary interstitial cells in tissue culture: stimulation by angiotensin II, bradykinin and arginine vasopressin. J Clin Invest 60:215-223
35. _ (1980) Regulation of prostaglandin E2 synthesis by angiotensin II, potassium, osmolality, and dexamethasone. Kidney Int 17:277-283