Fol. Biol. 2011, 57, 65-73

https://doi.org/10.14712/fb2011057020065

DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes – Summary of Mutation Screening

Markéta Urbanová1, J. Reiterová1,2, J. Štekrová1, P. Lněnička1, R. Ryšavá2

1Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
2Department of Nephrology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic

Received September 2010
Accepted October 2010

References

1. Birkenhager, R., Otto, E., Schurmann, M. J., Vollmer, M., Ruf, E. M., Maier-Lutz, I., Beekmann, F., Fekete, A., Omran, H., Feldmann, D., Milford, D. V., Jeck, N., Konrad, M., Landau, D., Knoers, N. V., Antignac, C., Sudbrak, R., Kispert, A., Hildebrandt, F. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat. Genet. 29, 310-314. <https://doi.org/10.1038/ng752>
2. Boim, M. A., Ho, K., Shuck, M. E., Bienkowski, M. J., Block, J. H., Slightom, J. L., Yang, Y., Brenner, B. M., Hebert, S. C. (1995) ROMK inwardly rectifying ATP-sensitive K+ channel. II. Cloning and distribution of alternative forms. Am. J. Physiol. 268, F1132-1140.
3. Brochard, K., Boyer, O., Blanchard, A., Loirat, C., Niaudet, P., Macher, M. A., Deschenes, G., Bensman, A., Decramer, S., Cochat, P., Morin, D., Broux, F., Caillez, M., Guyot, C., Novo, R., Jeunemaitre, X., Vargas-Poussou, R. (2009) Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol. Dial. Transplant. 24, 1455-1464. <https://doi.org/10.1093/ndt/gfn689>
4. Chasman, D., Adams, R. M. (2001) Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J. Mol. Biol. 307, 683-706. <https://doi.org/10.1006/jmbi.2001.4510>
5. Coto, E., Rodriguez, J., Jeck, N., Alvarez, V., Stone, R., Loris, C., Rodriguez, L. M., Fischbach, M., Seyberth, H. W., Santos, F. (2004) A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int. 65, 25-29. <https://doi.org/10.1111/j.1523-1755.2004.00388.x>
6. De Jong, J. C., Van Der Vliet, W. A., Van Der Neucel, L. P. W. J., Willems, P. H. G. M., Knoers, N. V. A. M., Bindels, R. J. M. (2002) Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman’s syndrome. J. Am. Soc. Nephrol. 13, 1442-1448. <https://doi.org/10.1097/01.ASN.0000017904.77985.03>
7. Deen, P. M., van Balkom, B. W., Kamsteeg, E. J. (2000) Routing of the aquaporin-2 water channel in health and disease. Eur. J. Cell. Biol. 79, 523-530. <https://doi.org/10.1078/0171-9335-00075>
8. Fukuyama, S., Okudaira, S., Yamazato, S., Yamazato, M., Ohta, T. (2003) Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int. 64, 808-816. <https://doi.org/10.1046/j.1523-1755.2003.00163.x>
9. Fukuyama, S., Hiramatsu, M., Akagi, M., Higa, M., Ohta, T. (2004) Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J. Clin. Endocrinol. Metab. 89, 5847-5850. <https://doi.org/10.1210/jc.2004-0775>
10. Gitelman, H. J., Graham, J. B., Welt, L. G. (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Physicians 79, 221-235.
11. Hendy, G. N., D’Souza-Li, L., Yang, B., Canaff, L., Cole, D. E. (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum. Mutat. 16, 281-296. <https://doi.org/10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A>
12. Jeck, N., Waldegger, S., Lampert, A., Boehmer, C., Waldegger, P., Lang, P. A., Wissinger, B., Friedrich, B., Risler, T., Moehle, R., Lang, U. E., Zill, P., Bondy, B., Schaeffeler, E., Asante-Poku, S., Seyberth, H., Schwab, M., Lang, F. (2004) Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension, 43, 1175-1181. <https://doi.org/10.1161/01.HYP.0000129824.12959.f0>
13. Kleta, R., Bockenhauer, D. (2006) Bartter syndromes and other salt-losing tubulopathies. Nephron. Physiol. 104, 73-80. <https://doi.org/10.1159/000094001>
14. Knoers, N. V. A. M., Starremans, P. G. J. F., Monnens, L. A. H. (2005) Hypokalemic tubular disorders. In Oxford Textbook in Clinical Nephrology. pp. 995-1004, Oxford University Press.
15. Knoers, N. V. A. M., Levtchenko, E. N. (2008) Gitelman syndrome. Orphanet J. Rare Dis. 3, 22. <https://doi.org/10.1186/1750-1172-3-22>
16. Kurschat, C., Heering, P., Grabensee, B. (2003) Gitelman’s syndrome: an important differential diagnosis of hypokalemia. Dtsch. Med. Wochenschr. 128, 1225-1228.
17. Lin, S. H., Shiang, J. C., Huang, C. C., Yang, S. S., Hsu, Y. J., Cheng, C. J. (2005) Phenotype and genotype analysis in Chinese patients with Gitelman’s syndrome. J. Clin. Endocrinol. Metab. 90, 2500-2507. <https://doi.org/10.1210/jc.2004-1905>
18. Mastroianni, N., De Fusco, M., Zollo, M., Arrigo, G., Zuffardi, O., Bettinelli, A., Ballabio, A., Casari, G. (1996) Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35, 486-493. <https://doi.org/10.1006/geno.1996.0388>
19. Ng, P. C., Henikoff, S. (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12, 436-446. <https://doi.org/10.1101/gr.212802>
20. Peters, M., Jeck, N., Reinalter, S., Leonhardt, A., Tonshoff, B., Klaus, G. G., Konrad, M., Seyberth, H. W. (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am. J. Med. 112, 183-190. <https://doi.org/10.1016/S0002-9343(01)01086-5>
21. Pressler, C. A., Heinzinger, J., Jeck, N., Waldegger, P., Pechmann, U., Reinalter, S., Konrad, M., Beetz, R., Seyberth, H. W., Waldegger, S. (2006) Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Clco-transporter. J. Am. Soc. Nephrol. 17, 2136-2142. <https://doi.org/10.1681/ASN.2005101071>
22. Pugh-Clarke, K. (2007) Comprehensive Clinical Nephrology (3rd edition), Eds. J. Feehally, J. Floege & R. J. Johnson. Mosby, Philadelphia, PA.
23. Puricelli, E., Bettinelli, A., Borsa, N., Sironi, F., Mattiello, C., Tammaro, F., Tedeschi, S., Bianchetti, M. G. (2010) Longterm follow-up of patients with Bartter syndrome type I and II. Nephrol. Dial. Transplant. 25, 2976-2981. <https://doi.org/10.1093/ndt/gfq119>
24. Reissinger, A., Ludwig, M., Utsch, B., Promse, A., Baulmann, J., Weisser, B., Vetter, H., Kramer, H. J., Bokemeyer, D. (2002) Novel NCCT gene mutations as a cause of Gitelman’s syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press. Res. 25, 354-362. <https://doi.org/10.1159/000068695>
25. Riveira-Munoz, E., Chang, Q., Godefroid, N., Hoenderop, J. G., Bindels, R. J., Dahan, K., Devuyst, O. (2007) Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J. Am. Soc. Nephrol. 18, 1271-1283. <https://doi.org/10.1681/ASN.2006101095>
26. Scheinman, S. J., Guay-Woodford, L. M., Thakker, R. V., Warnock, D. G. (1999) Genetic disorders of renal electrolyte transport. N. Engl. J. Med. 340, 1177-1187. <https://doi.org/10.1056/NEJM199904153401507>
27. Schultheis, P. J., Lorenz, J. N., Meneton, P., Nieman, M. L., Riddle, T. M., Flagella, M., Duffy, J. J., Doetschman, T., Miller, M. L., Shull, G. E. (1998) Phenotype resembling Gitelman’s syndrome in mice lacking the apical Na+Clcotransporter of the distal convoluted tubule. J. Biol. Chem. 273, 29150-29155. <https://doi.org/10.1074/jbc.273.44.29150>
28. Shuck, M. E., Bock, J. H., Benjamin, C. W., Tsai, T. D., Lee, K. S., Slightom, J. L., Bienkowski, M. J. (1994) Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J. Biol. Chem. 269, 24261-24270. <https://doi.org/10.1016/S0021-9258(19)51076-6>
29. Simon, D. B., Karet, F. E., Rodriguez-Soriano, J., Hamdan, J. H., DiPietro, A., Trachtman, H., Sanjad, S. A., Lifton, R. P. (1996a) Genetic heterogeneity of Bartter’s syndrome revealed by mutations in the K+ channel, ROMK. Nat. Genet. 14, 152-156. <https://doi.org/10.1038/ng1096-152>
30. Simon, D. B., Nelson-Williams, C., Bia, M. J., Ellison, D., Karet, F. E., Molina, A. M., Vaara, I., Iwata, F., Cushner, H. M., Koolen, M., Gainza, F. J., Gitleman, H. J., Lifton, R. P. (1996b) Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat. Genet. 12, 24-30. <https://doi.org/10.1038/ng0196-24>
31. Simon, D. B., Bindra, R. S., Mansfield, T. A., NelsonWilliams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., Rodriguez-Soriano, J., Morales, J. M., Sanjad, S. A., Taylor, C. M., Pilz, D., Brem, A., Trachtman, H., Griswold, W., Richard, G. A., John, E., Lifton, R. P. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat. Genet. 17, 171-178. <https://doi.org/10.1038/ng1097-171>
32. Urbanova, M., Reiterova, J., Rysava, R., Stekrova, J., Merta, M. (2006) Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia – three novel mutations found. Kidney Blood Press. Res. 29, 360-365. <https://doi.org/10.1159/000097777>
33. Zelikovic, I., Szargel, R., Hawash, A., Labay, V., Hatib, I., Cohen, N., Nakhoul, F. (2003) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int. 63, 24-32. <https://doi.org/10.1046/j.1523-1755.2003.00730.x>
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