Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome

Clinical Genetics

Volumn 77, Issue 2, 2010, Pages 155-162

  Yu, Y ^a,b   Xu, C ^c   Pan, X ^a   Ren, H ^a   Wang, W ^a   Meng, X ^d   Huang, F ^c   Chen, N ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

^c Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^d SHANDONG UNIVERSITY   (China)

Author keywords

Bartter syndrome; ClC Kb; CLCNKB; Mutation

Indexed keywords

CALCIUM; CHLORIDE CHANNEL; CHLORIDE CHANNEL CLCNKB; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BARTTER SYNDROME; CASE REPORT; CELL PH; CHINESE; CONTROLLED STUDY; EXTRACELLULAR CALCIUM; FEMALE; GENE FUNCTION; GENE SEQUENCE; HETEROLOGOUS EXPRESSION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; OOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VOLTAGE CLAMP; WILD TYPE; XENOPUS LAEVIS;

ANIMALS; BARTTER SYNDROME; CHINA; CHLORIDE CHANNELS; ELECTROPHYSIOLOGY; HUMANS; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; XENOPUS LAEVIS;

XENOPUS LAEVIS;

EID: 73949084182     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01288.x     Document Type: Article

References (28)

1. Guay-Woodford LM. Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med 1998, 105:151-161.
2. Simon DB, Bindra RS, Mansfield TA. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997, 17:171-178.
3. Uchida S. In vivo role of CLC chloride channels in the kidney. Am J Physiol Renal Physiol 2000, 279:F802-F808.
4. Jentsch TJ, Stein V, Weinreich F. Molecular structure and physiological function of chloride channels. Physiol Rev 2002, 82:503-568.
5. Kobayashi K, Uchida S, Mizutani S. Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney. J Am Soc Nephrol 2001, 12:1327-1334.
6. Kobayashi K, Uchida S, Okamura HO. Human CLC-KB gene promoter drives the EGFP expression in the specific distal nephron segments and inner ear. J Am Soc Nephrol 2002, 13:1992-1998.
7. Estevez R, Boettger T, Stein V. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 2001, 414:558-561.
8. Waldegger S, Jentsch TJ. Functional and structural analysis of ClC-K chloride channels involved in renal disease. J Biol Chem 2000, 275:24527-24533.
9. Jeck N, Konrad M, Peters M. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000, 48:754-758.
10. Konrad M, Vollmer M, Lemmink HH. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000, 11:1449-1459.
11. Zelikovic I, Szargel R, Hawash A. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 2003, 63:24-32.
12. Fukuyama S, Hiramatsu M, Akagi M. Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab 2004, 89:5847-5850.
13. Rodriguez-Soriano J, Vallo A, Perez de Nanclares G. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol 2005, 20:891-896.
14. Bettinelli A, Borsa N, Bellantuono R. Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. Am J Kidney Dis 2007, 49:91-98.
15. Fukuyama S, Okudaira S, Yamazato S. Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int 2003, 64:808-816.
16. Dutzler R, Campbell EB, Cadene M. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002, 415:287-294.
17. Miller C. ClC chloride channels viewed through a transporter lens. Nature 2006, 440:484-489.
18. Nozu K, Fu XJ, Nakanishi K. Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. Pediatr Res 2007, 62:364-369.
19. Kondo Y, Yoshitomi K, Imai M. Effect of Ca2+ on Cl- transport in thin ascending limb of Henle's loop. Am J Physiol 1988, 254:F232-F239.
20. Asplin JR, Mandel NS, Coe FL. Evidence of calcium phosphate supersaturation in the loop of Henle. Am J Physiol 1996, 270:F604-F613.
21. Watanabe S, Fukumoto S, Chang H. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002, 360:692-694.
22. Vargas-Poussou R, Huang C, Hulin P. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002, 13:2259-2266.
23. Martinez GQ, Maduke M. A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane. PLoS ONE 2008, 3:e2746.
24. Niemeyer MI, Cid LP, Yusef YR. Voltage-dependent and -independent titration of specific residues account for complex gating of a ClC chloride channel by extracellular protons. J Physiol 2009, 587:1387-1400.
25. Kondo Y, Yoshitomi K, Imai M. Effect of pH on Cl- transport in TAL of Henle's loop. Am J Physiol 1987, 253:F1216-F1222.
26. Lin YW, Lin CW, Chen TY. Elimination of the slow gating of ClC-0 chloride channel by a point mutation. J Gen Physiol 1999, 114:1-12.
27. Duffield M, Rychkov G, Bretag A. Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol 2003, 121:149-161.
28. Accardi A, Ferrera L, Pusch M. Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S. J Physiol 2001, 534:745-752.