A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

Kidney International

Volumn 63, Issue 1, 2003, Pages 24-32

  Zelikovic, Israel ^a   Szargel, Raymonde ^a   Hawash, Ali ^a   Labay, Valentina ^b   Hatib, Ihab ^a   Cohen, Nadine ^c   Nakhoul, Farid ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c J and J Pharmaceutical Research and Development   (United States)

Author keywords

Bedouin kindred study; Chloride channels; DNA; Hereditary hypokalemic tubulopathy; Linkage (genetics); Magnesium deficiency; Phenotype; Sequence analysis

Indexed keywords

ARGININE; CALCIUM; CHLORIDE CHANNEL; CREATININE; HISTIDINE; MAGNESIUM; UREA;

ADULT; ARTICLE; BARTTER SYNDROME; CALCIUM URINE LEVEL; CHILD; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL FEATURE; CLNCNKB GENE; CONTROLLED STUDY; CREATININE URINE LEVEL; DEHYDRATION; EXON; FAMILY STUDY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; GITELMAN SYNDROME; GROWTH; GROWTH RETARDATION; HOMOZYGOTE; HUMAN; HYPERCALCIURIA; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; INBRED STRAIN; ISRAEL; KIDNEY TUBULE DISORDER; LINKAGE ANALYSIS; MAGNESIUM URINE LEVEL; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; PHENOTYPE; POLYURIA; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLC12A3 GENE; TSC GENE; URINE LEVEL;

EID: 0037213896     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2003.00730.x     Document Type: Article

References (34)

1. Guay-Woodford LM: Bartter syndrome: Unraveling the pathophysiologic enigma. Am J Med 105:151-161, 1998
2. Rodriguez-Soriano J: Bartter and related syndromes: The puzzle is almost solved. Pediatr Nephrol 12:315-327, 1998
3. Zelikovic I: Molecular pathophysiology of tubular transport disorders. Pediatr Nephrol 16:919-935, 2001
4. Gitelman HJ, Graham JB, Welt LG: A new familial disorder characterized by hypokalemia and hypomagnesaemia. Trans Assoc Am Physicians 79:221-235, 1966
5. Simon DB, Karet FE, Hamdan JM, et al: Bartter's syndrome: Hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2C1 cotransporter NKCC2. Nat Genet 13:183-188, 1996
6. + channel, ROMK. Nat Genet 14:152-156, 1996
7. Simon DB, Bindra RS, Mansfield TA, et al: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178, 1997
8. Simon DB, Nelson-Williams C, Bia MJ, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-C1 cotransporter. Nat Genet 12:24-30, 1996
9. Vargas-Poussou R, Feldman D, Vollmer M, et al: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 62:1332-1340, 1998
10. Kurtz CL, Karolyi L, Seyberth HW, et al: A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: Evidence for a founder effect. J Am Soc Nephrol 8:1706-1711, 1997
11. International Collaborative Study Group for Bartter-like Syndromes: 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, 1997
12. Vollmer M, Koehrer M, Topaloglu R, et al: Two novel mutations of the gene for K 1.1 (ROMK) in neonatal Bartter syndrome. Pediatr Nephrol 12:69-71, 1998
13. Lemmink HH, Knoers NVAM, Karolyi L, et al: Novel mutations in the thiazide-sensitive NaC1 cotransporter gene in patients with Gitelman syndrome. Kidney Int 54:720-730, 1998
14. Konrad M, Vollmer M, Lemmink HH, et al: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11:1449-1459, 2000
15. Jeck N, Konrad M, Peters M, et al: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48:754-758, 2000
16. Brennan TMH, Landau D, Shalev S, et al: Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355-361, 1998
17. Birkenhager R, Otto E, Schurmann MJ, et al: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310-314, 2001
18. + secretion. Nature 414:558-561, 2001
19. Sambrook J, Fritsch E, Maniatis T: Molecular Cloning: A Laboratory Manual (vol 1-3). Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989
20. Dib C, Faure S, Fizames C, et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154, 1996
21. Gyapay G, Ginot F, Nguyen S, et al: Genotyping procedures in linkage mapping. Methods 9:91-97, 1996
22. Monkawa T, Kurihara I, Kobayashi K, et al: Novel mutations in thiazide-sensitive Na-C1 cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 11:65-70, 2000
23. Bettinelli A, Bianchetti MG, Girardin E, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120:38-43, 1992
24. Turman MA: Concomitant occurrence of Gitelman and Bartter syndromes in the same family? Pediatr Nephrol 12:23-25, 1998
25. Simon DB, Lifton RP: Mutations in Na(K)C1 transporters in Gitelman's and Bartter's syndrome. Curr Opin Cell Biol 10:450-454, 1998
26. Scheinman SJ, Guay-Woodford LM, Thakker RV, et al: Genetic disorders of renal electrolyte transport. N Engl J Med 340:1177-1187, 1999
27. Vandewalle A, Cluzeaud F, Bens M, et al: Localization and induction by dehydration of CIC-K chloride channels in the rat kidney. Am J Physiol 272:F678-F688, 1997
28. Uchida SH: In vivo role of CLC chloride channels in the kidney. Am J Physiol 279:F802-F808, 2000
29. Kobayashi K, Uchida SH, Mizutani SH, et al: Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney. J Am Soc Nephrol 12:1327-1334, 2001
30. Mount DB, Mercado A, Song L, et al: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem 274:16355-16362, 1999
31. Luyckx VA, Goda FO, Mount DB, et al: Intrarenal and subcellular localization of rat CLC5. Am J Physiol 275:F761-F769, 1998
32. Devuyst O, Burrow CR, Schwiebert EM, et al: Developmental regulation of CFTR expression during human nephrogenesis. Am J Physiol 271:F723-F735, 1996
33. Cole DEC, Quamme GA: Inherited disorders of renal magnesium handling. J Am Soc Nephrol 11:1937-1947, 2000
34. Friedman PA: Codependence of renal calcium and sodium transport. Annu Rev Physiol 60:179-197, 1998