Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome

Endocrine Journal

Volumn 53, Issue 5, 2006, Pages 647-652

  Tajima, Toshihiro ^a   Nawate, Mitsuru ^b   Takahashi, Yutaka ^b   Mizoguchi, Yumiko ^c   Sugihara, Shigetaka ^c   Yoshimoto, Masaaki ^d   Murakami, Mutsumi ^e   Adachi, Masanori ^f   Tachibana, Katsuhiko ^f   Mochizuki, Hiroshi ^g   Fujieda, Kenji ^h  

^a HOKKAIDO UNIVERSITY   (Japan)

^b Konan Hospital   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Children's Clinic Yoshimoto   (Japan)

^e NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^g SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^h ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

CLCNKB; Hypokalemia; Novel mutation; W610X

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL CLC KB; UNCLASSIFIED DRUG;

ARTICLE; BARTTER SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST; EXON; FAILURE TO THRIVE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; HUMAN; HYPOKALEMIA; INFANT; LABORATORY TEST; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOGENESIS; PRESCHOOL CHILD; WEIGHT GAIN;

ASIAN CONTINENTAL ANCESTRY GROUP; BARTTER SYNDROME; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MUTATION;

EID: 33750626252     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K06-034     Document Type: Article

References (23)

1. Bartter FC, Pronove O, Gill JR Jr, MacCardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33: 811-828.
2. Shaer AJ (2000) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 322: 316-332.
3. Konrad M, Weber S (2003) Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 14: 249-260.
4. Jeck N, Schlingmann KP, Reinalter SC, Komhoff M, Peters M, Waldegger S, Seyberth HW (2005) Salt handling in the distal nephron: lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 288: R782-795.
5. Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 59: 454-459.
6. Simon DB, Karet FE, Hamdan JM, Dipietro A, Sanjad SA, Lifton RP (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183-188.
7. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14: 152-156.
8. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca F, Stone R, Shurman S, Nayir A, Alpay H, Aysin B, Rodriguez-Sorianl J, Morales JM, Sanjad SM, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171-178.
9. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP (1996) 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.
10. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sundbrak R, Kispert A, Hildebrandt F (2001) Mutation in BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29: 310-314.
11. Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F (2000) Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11: 1449-1459.
12. Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S (2004) Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 350: 1314-1319.
13. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW (2000) Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype Pediatr Res 48: 754-758.
14. Schurman SJ, Perlman SA, Sutphen R, Campos A, Garin EH, Cruz DN, Shoemaker LR (2001) Genotype/phenotype observations in African Americans with Bartter syndrome. J Pediatr 139: 105-110.
15. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus G, Konrad M, Seyberth HW (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183-190.
16. 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.
17. 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.
18. Watanabe T, Tajima T (2005) Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. Pediatr Nephrol 20: 676-678.
19. Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW (1995) Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis. Genomics 29: 598-606.
20. Brandt S, Jentsch TJ (1995) ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett 377: 15-20.
21. Mount DB, Mercado A, Song L, Xu J, George AL, Delpire E, Gamba G (2000) Cloning and characterization of KCC3 and KCC4, new members of the cationchloride cotransporter gene family. J Biol Chem 274: 16355-16362.
22. Devuyst O, Burrow CR, Schwiebert EM, Guggino WB, Wilson PD (1996) Developmental regulation of CFTR expression during human nephrogenesis. Am J Physiol 271: F723-735.
23. Luyckx VA, Goda FO, Mount DB, Nishio T, Hall A, Hebert SC, Hammond TG, Yu A (1998) Intrarenal and subcellular localization of rat CLC5. Am J Physiol 275: F761-769.