Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity

Human Molecular Genetics

Volumn 6, Issue 1, 1997, Pages 17-26

  Károlyi, Lothar ^a   Konrad, Martin ^a   Köckerling, Arnold ^a   Ziegler, Andreas ^a   Zimmermann, Dorthe K ^a   Roth, Bernd ^b   Wieg, Christian ^c   Grzeschik, Karl Heinz ^a   Koch, Manuela C ^a   Seyberth, Hannsjörg W ^a   Vargas, Rosa ^d   Forestier, Lionel ^d   Jean, Genevieve ^d   Deschaux, Michele ^d   Rizzoni, Gian Franco ^e   Niaudet, Patrick ^d   Antignac, Corinne ^d   Feldmann, Delphine ^f   Lorridon, Frederique ^f   Cougoureux, Emmanuel ^f   Laroze, France ^f   Alessandri, Jean Luc ^g   David, Louis ^h   Saunier, Pascal ⁱ   Deschenes, Georges ^f   Hildebrandt, Friedhelm ^j   Vollmer, Martin ^j   Proesmans, Willem ^k   Brandis, Matthias ^j   Van Den Heuvel, Lambertus P W J ^l   Lemmink, Henny H ^l   Nillesen, Willy ^l   Monnens, Leo A H ^l   Knoers, Nine V A M ^l   Guay Woodford, Lisa M ^m   Wright, Christopher J ⁿ   Madrigal, Gilbert ^o   Hebert, Steven C ^p   more..

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c Children's Hospital   (Germany)

^d INSERM   (France)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g Centre Hospitalier Departemental Felix Guyon   (France)

^h EDOUARD HERRIOT HOSPITAL   (France)

ⁱ Service d'Ophtalmologie   (France)

^j UNIVERSITY OF FREIBURG   (Germany)

^k UNIVERSITY OF LEUVEN   (Belgium)

^l RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^m UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

ⁿ UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^o HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

^p BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; BARTTER SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; GITELMAN SYNDROME; HUMAN; HYPOCALCIURIA; HYPOKALEMIC ALKALOSIS; HYPOMAGNESEMIA; KIDNEY TUBULE DISORDER; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BARTTER SYNDROME; DNA MUTATIONAL ANALYSIS; GENES; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; VARIATION (GENETICS);

EID: 8044222737     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.17     Document Type: Article

References (63)

1. Bartter, F.C., Pronove, P., Gill, J., and MacCardle, R. (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am. J. Med. 33, 811-828.
2. Hogewind, B., Van Brummelen, P., and 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, 463-67.
3. Schwartz, I., and Alon, U. (1996) Bartter syndrome revisited. J. Nephrol. 9, 81-87.
4. Gitelman, H., Graham, J., and Welt, L. (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Physicians 79, 221-235.
5. Seyberth, H.W., Rascher, W., Schweer, H., Kuehl, P.C., Mehls, O., and Schaerer, K. (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter's syndrome. J. Pediatr. 107, 694-701.
6. Clive, D. (1995) Bartter's syndrome: the unsolved puzzle. Am. J. Kidney Dis. 25, 813-823.
7. Rodriguez-Soriano, J., Vallo, A., and Garcia-Fuentes, M. (1987) Hypomagnesemia of hereditary renal origin. Pediatr. Nephrol. 1, 465-72.
8. Gitelman, H. (1992) Hypokalemia, hypomagnesemia, and alkalosis: A rose is a rose - or is it? J. Pediatr. 129, 79-80.
9. Bettinelli, A., Bianchetti, M., Girardin, E., Caringella, A., Cecconi, M., Appiani, A.C., Pavanello, L., Gastaldi, R., Isimbaldi, C., and Lama, G. (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular Hypokalemia Alkalosis: Bartter and Gitelman syndromes. J. Pediatr. 120, 38-13.
10. Simon, D., Nelson-Williams, C., Bia, M., Ellison, D., Karet, F., Molina, A., Vaara, I., Iwata, F., Cushner, H., M, M.K., Gainza, F., Gitelman, H., and Lifton, R. (1996) Gitelman's variant of Bartter syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-CI cotransporter. Nature Genet. 12, 24-30.
11. Lemmink, H., Heuvel, L.v.d., Dijk, H.v., Merkx, G., Smilde, T., Taschner, P., Monnens, L., Hebert, S., and Knoers, N. (1996) Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr. Nephrol. 10, 403-407.
12. Karolyi, L., Ziegler, A., Pollak, M., Fischbach, M., Grzeschik, K.-H., Koch, M., and Seyberth, H. (1996) Gitelman's syndrome is genetically distinct from other forms of Bartter syndrome. Pediatr. Nephrol. 10, 551-554.
13. Gladziwa, U., Schwarz, R., Gitter, A., Bijman, J., Seyberth, H., Beck, F., Ritz, E. and Gross, P. (1995) Chronic hypokalaemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. Nephrol. Dial. Transplant. 10, 1607-1613.
14. Geven, W., Willems, J., Schroder, C. and Monnens, L. (1994) Study of the pathophysiology of Bartter/Gitelman's syndrome. Magnesium Bull 16, 29-36.
15. Fujita, T., Sakaguchi, H., Shibagaki, M., Fukui, T., Nomura, M., and Sekiguchi, S. (1977) The pathogenesis of Batter's syndrome. Functional and histologic studies. Am. J. Med. 63, 467-74.
16. Gill, J., and Bartter, F.C. (1978) Evidence for a prostaglandin independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter's syndrome. Am. J. Med. 65, 766-772.
17. Bartter, F.C. (1980) On the pathogenesis of Bartter syndrome. Miner. Electroyte Metab. 3, 61-65.
18. Stein, J.H. (1985) The pathogenetic spectrum of Bartter's syndrome. Kidney Int. 28, 85-93.
19. Deschenes, G., Burguet, A., Guyot, C., Hubert, P., Garabedian, M., Dechaux, M., Loirat, C., and Broyer, M. (1993) Forme antenatale du syndrome de Bartter. Ann. Pediatr. 40, 95-101.
20. Proesmans, W., Devlieger, H., Assche, A.V., Eggermont, E., Vandenherghe, K., Lemmens, F., Sieprath, P. and Lijnen, P. (1985) Bartter syndrome in two siblings - antenatal and neonatal observations. Int. J. Pediatr. Nephrol. 6, 63-70.
21. Ohlsson, A., Sieck, U., Cumming, W., Akhtar, M., and Serenius, F. (1984) Bartter syndrome associated with hydraamnios, prematurity, hypercalciuria and nephrocalcinosis. Acta Pediatr. Scand. 73, 868-874.
22. Proesmans, W., Massa, G., Vanderberghe, K. and Assche, A.V. (1987) Prenatal diagnosis in Bartter syndrome. Lancer 1, 394.
23. Fanconi, A., Schachenmann, G., Nussli, R., and Prader, A. (1971) Chronic hypokalemia with growth retardation, normotensive hyperrenin-hyperaldosteronism (Bartter's syndrome) and hypercalciuria. Helv. Pediatr. Acta. 2, 144-63.
24. Leonhardt, A., Timmermanns, G., Roth, B., and Seyberth, H. (1992) Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. J. Pediatr. 120, 546-54.
25. McCredie, D.A., Rotemberg, E., and Williams, A.L. (1974) Hypercalciuria in potassium losing nephropathy. A variant of Bartter's syndrome. Aust. Pediatr. J. 10, 286-295.
26. Shoemaker, L., Welch, T., Bergstrom, W., Abrams, S., Yergey, A., and Vieira, N. (1993) Calcium kinetics in the hyperprostaglandin E syndrome. Pediatr. Res. 33, 92-96.
27. Seyberth, H., Koniger, S., Rascher, W., Kuhl, P., and Schweer, H. (1987) Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr. Nephrol. 1, 491-497.
28. Simon, D., Karet, F., Hamdan, J., DiPetro, A., Sanjad, S., and Lifton, R. (1996) Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet. 13, 183-188.
29. Kockerling, A., Reinalter, S., and 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.
30. Giebisch, G., and Wang, W. (1996) Potassium transport: from clearance to channels and pumps. Kidney Int. 49, 1624-1631.
31. Lang, F., and Rehwald, W. (1992) Potassium channels in renal epithelial transport regulation. Physiol. Rev. 72, 1-32.
32. Krishnan, S., Desai, T., Ward, D., and Haddad, G. (1995) Isolation and chromosomal localization of a human ATP-regulated potassium channel. Hum. Genet. 96, 155-160.
33. Yano, H., Philipson, L., Kugler, J., Tokuyama, Y., Davis, E., Beau, M.I., Nelson, D., Bell, G., and Takeda, J. (1994) Alternative splicing of human inwardly rectifying K+ channel ROMKI mRNA. Mol. Pharmacol. 45, 854-860.
34. Shuck, M., Bock, J., Benjamin, C., Tsai, T.-D., Lee, K., Slightom, J., and Bienkowski, M. (1994) Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J. Biol. Chem. 269, 24261-24270.
35. McNicholas, C., Yang, Y., Giebisch, G., and Hebert, S. (1996) Molecular site for nucleotide binding on an ATP-sensitive renal K+ channel (ROMK2). Am. J. Physiol. 271, F275-F280.
36. Boim, M., Ho, K., Shuck, M., Bienkowski, M., Block, J., Slightom, J., Yang, Y., Brenner, B., and Hebert, S. (1995) ROMK inwardly rectifying ATP-sensitive K+ channel. II. cloning and distribution of alternative forms. Am. J. Physiol. 268, F11132-F1140.
37. Ho, K., Nichols, C., Lederer, W., Lytton, J., Vassilev, P., Kanazirska, M., and Hebert, S. (1993) Cloning and expression of an inwardly rectifying ATP-regulated potassium channel. Nature 362, 31-38.
38. McNicholas, C., Wang, W., Ho, K., Hebert, S., and Giebisch, G. (1994) Regulation of ROMKI K+ channel activity involves phosphorylation processes. Proc. Nutl. Acad. Sci. USA 91, 8077-8081.
39. Tsai, T., Shuck, M., Thompson, D., Bienkowski, M., and Lee, K. (1995) Intracellular H+ inhibits a cloned rat kidney outer medulla K+ channel expressed in Xenopus oocytes. Am. J. Physiol. 268, C1173-C1178.
40. Wang, W., Sackin, H., and Giebisch, G. (1992) Renal potassium channels and their regulation. Anna. Rev. Physiol. 54, 81-96.
41. Hebert, S., and Andreoli, T. (1984) Control of NaCl transport in the thick ascending limb. Am. J. Physiol. 246, F745-F756.
42. Hebert, S., Friedman, P., and Andreoli, T. (1984) The effects of antidiuretic hormone on cellular conductive pathways in mouse medullary thick ascending limbs of Henle. I. ADH increases transcellular conductance pathways. J. Membrane Biol. 80, 201-219.
43. Doi, T., Fakler, B., Schultz, J., Schulte, U., Brandle, U., Weidemann, S., Zenner, H.-P., Lang, F., and Ruppersberg, J. (1996) External K+ and intracellular pH allosterically regulate renal Kir 1.1 channels. J. Biol. Chem. 271, 17261-17266.
44. Coulter, K., Perier, F., Radeke, C., and Vandenberg, C. (1995) Identification and molecular characterization of a pH-sensing domain for the inward rectifier potassium channel, HIR. Nephron 15, 1157-1168.
45. Schwalbe, R., Wang, Z., Wible, B., and Brown, A. (1995) Potassium channel structure and function as reported by a single glycosylation sequon. J. Biol. Chem. 270, 15336-15340.
46. Choe, S., Stevens, C., and Sullivan, J. (1995) Three distinct structural environments of a transmembrane domain in the inwardly rectifying potassium channel ROMK1 defined by perturbation. Proc. Natl. Acad. Sci. USA 92, 12046-12049.
47. Xu, Z.-C., Yang, Y., and Hebert, S. (1996) Phosphorylation of the ATP-sensitive, inwardly rectifying K+ channel, ROMK, by cyclic AMP-dependent protein kinase. J. Biol. Chem. 271, 9313-9319.
48. Macica, C., Yang, Y., and Hebert, S. (1996) Arachidonic acid inhibits activity of the cloned renal K channel, ROMK1. Am. J. Physiol. 271, F588-F594.
49. Taglialatela, M., Wible, B., Caporaso, R., and Brown, A. (1994) Specifications of pore properties by the carboxyl terminus of inwardly rectifying K+ channels. Science 264, 844-847.
50. Hufnagle, K., Khan, S., Penn, D., Cacciarelli, A., and Williams, P. (1982) Renal calcifications: a complication of long-term furosemide therapy in pre-term infants. Pediatrics 70, 360-363.
51. Venkataraman, Han, B., Tsang, R., and Daugerthy, C. (1983) Secondary hyperparathyroidism and bone disease in infants receiving long-term furosemide RX. J. Pediatr. Adolesc. Med. [Am. J. Dis. Child.]. 137, 1157-1161.
52. Sutton, R., Mavichak, V., Halabe, A., and Wilkins, G. (1992) Bartter's syndrome: Evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner. Electrolyte Metab. 18, 43-51.
53. Greger, R., and Heidland, A. (1991) Action and clinical use of diuretics. In Cameron, S., Davison, A.M., Grunfeld, J.P., eds. Textbook of Clinical Nephrology. London: Oxford University Press. pp 197-223.
54. Schlondorff, D. and Ardaillou, R. (1986) Prostaglandins and other arachicondic acid metabolites in the kidney. Kidney Int. 29, 108-119.
55. Wang, W.-H. (1994) Two types of K+ channel in thick ascending limb of rat kidney. Am. J. Physiol. 267, F599-F605.
56. Stokes, J. (1979) Effect of prostaglandin E2 on chloride transport across the rabbit thick ascending limb of Henle. J. Clin. Invest. 64, 495-502.
57. Culpepper, R., and Andreoli, T. (1983) Interactions among prostaglandin E2, antidiuretic hormone and cyclic adenosine monophosphate in modulating C1 absorption in single mouse medullary thick ascending limbs of Henle. J. Clin. Invest. 71, 1588-1591.
58. Nakao, A., Allen, M., Sonnenburg, W., and Smith, W. (1989) Regulation of cAMP metabolism by PGE2 in cortical and medullary thick ascending limbs of Henle's loop. Am. J. Physiol. 256, C652-C657.
59. Fougerousse, F., Broux, O., Richard, I., Allamand, V., Pereira de Souza, A., Bourg, N., Brenguier, L., Devaud, C., Pasturaud, P., Roudaut, C., Chiannilkulchai, B., Hillaire, D., Bui, H., Chumakov, I., Weissenbach, J., Cherif, D., Cohen, D., and Beckmann, J.S. (1994) Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. Hum. Mol. Genet. 3, 285-293.
60. Dib, C., Faure, S., Fizames, C., Samson, D., Drout, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., and Weissenbach, J. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154.
61. Lathrop, G.M., and Lalouel, J.M. (1984) Easy calculations of lod scores in genetic risks on small computers. Am. J Hum. Genet. 36, 460-465.
62. Orita, M., Suzuki, Y.H., Sakiya, T., and Hayaski, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879.
63. Hiort, O., Wedtke, A., Zollmer, A. and Sinneckes, G. (1994) Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymporphism analysis. Hum. Mol. Genet. 3, 1163-1166.