Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

Journal of the American Society of Nephrology

Volumn 11, Issue 8, 2000, Pages 1460-1468

  Yamamoto, Katsusuke ^a   Cox, Jeremy P D T ^a   Friedrich, Thomas ^h   Christie, Paul T ^a,g   Bald, Martin ^h   Houtman, Peter N ^h   Lapsley, Marta J ^b   Patzer, Ludwig ^c   Tsimaratos, Michel ^d   Van't Hoff, William G ^e   Yamaoka, Kanji ^f   Jentsch, Thomas J ^h   Thakker, Rajesh V ^a,g  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b ST HELIER HOSPITAL   (United Kingdom)

^c FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^d TIMONE HOSPITAL   (France)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f OSAKA GENERAL MEDICAL CENTER   (Japan)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION;

ADULT; ARTICLE; CHILD; CHLORIDE TRANSPORT; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; DENT DISEASE; DNA SEQUENCE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR WEIGHT; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 0033913886     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV: Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum Mol Genet 2: 2129-2134, 1993
2. Wrong OM, Norden AG, Feest TG: Dent's disease: A familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q J Med 87: 473-493, 1994
3. Thakker RV: The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. Curr Opin Nephrol Hypertens 1: 385-388, 1998
4. Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET: X-linked recessive nephrolithiasis with renal failure. N Engl J Med 325: 681-686, 1991
5. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV: Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 91: 2351-2357, 1993
6. Hoopes RR Jr, Hueber PA, Reid RJ Jr, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ: CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. Kidney Int 54: 698-705, 1998
7. Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G: Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1: 269-279, 1993
8. Igarashi T, Hayakawa H, Shiraga H, Kawato H, Van K, Kawaguchi H, Yamanaka T, Tsuchida S, Akagi K: Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: Is the disease identical to Dent's disease in United Kingdom? Nephron 69: 242-247, 1995
9. Lloyd SE, Pearce SH, Gunther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV: Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 99: 967-974, 1997
10. Akuta N, Lloyd SE, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox JP, Thakker RV: Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int 52: 911-916, 1997
11. Japan disease. Kidney Int 54: 1850-1856, 1998
12. Morimoto T, Uchida S, Sakamoto H, Kondo Y, Hanamizu H, Fukui M, Tomino Y, Nagano N, Sasaki S, Marumo F: Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. J Am Soc Nephrol 9: 811-818, 1998
13. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV: A common molecular basis for three inherited kidney stone diseases. Nature 379: 445-449, 1996
14. Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV: Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet 6: 1233-1239, 1997
15. Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW: Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet 3: 2053-2059, 1994
16. Fisher SE, van-Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW: Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics 29: 598-606, 1995
17. Jentsch TJ, Friedrich T, Schriever A, Yamada H: The CLC chloride channel family. Pflügers Arch 437: 783-795, 1999
18. Thakker RV: Chloride channels cough up [News]. Nat Genet 17: 125-127, 1997
19. Steinmeyer K, Schwappach B, Bens M, Vandewalle A, Jentsch TJ: Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J Biol Chem 270: 31172-31177, 1995
20. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV: Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8: 247-257, 1999
21. Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ: ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci USA 95: 8075-8080, 1998
22. Nykjær A, Dragun D, Walther D, Vorum H, Jacobsen C, Herz J, Meisen F, Christensen EI, Willnow TE: An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. Cell 96: 507-515, 1999
23. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96: 2683-2692, 1995
24. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335: 1115-1122, 1996
25. Lorenz C, Pusch M, Jentsch TJ: Heteromultimeric CLC chloride channels with novel properties. Proc Natl Acad Sci USA 93: 13362-13366, 1996
26. Scheinman SJ: X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations. Kidney Int 53: 3-17, 1998
27. Tanaka K, Fisher SE, Craig IW: Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. Genomics 58: 281-292, 1999
28. Mo L, Hellmich HL, Fong P, Wood T, Embesi J, Wills NK: Comparison of amphibian and human ClC-5: Similarity of functional properties and inhibition by external pH. J Membr Biol 168: 253-264, 1999
29. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A: A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet 3: 547-552, 1994
30. Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A: Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics 27: 131-141, 1995
31. Parkinson DB, Thakker RV: A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1: 149-152, 1992
32. Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown MR, Stein S, Eidson M, Parks JS, Cleveland W: Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome). J Clin Endocrinol Metab 82: 444-451, 1997
33. O'Neill JP, Rogan PK, Cariello N, Nicklas JA: Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum. Mutat Res 411: 179-214, 1998
34. Friedrich T, Breiderhoff T, Jentsch TJ: Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents. J Biol Chem 274: 896-902, 1999
35. Luyckx VA, Goda FO, Mount DB, Nishio T, Hall A, Hebert SC, Hammond TG, Yu AS: Intrarenal and subcellular localization of rat CLC5. Am J Physiol 275: F761-F769, 1998
36. Reinhart SC, Norden AG, Lapsley M, Thakker RV, Pang J, Moses AM, Frymoyer PA, Favus MJ, Hoepner JA, Scheinman SJ: Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol 5: 1451-1461, 1995
37. Nakazato H, Hattori S, Furuse A, Kawano T, Karashima S, Tsuruta M, Yoshimuta J, Endo F, Matsuda I: Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria. Kidney Int 52: 895-900, 1997
38. Kelleher CL, Buckalew VM, Frederickson ED, Rhodes DJ, Conner DA, Seidman JG, Seidman CE: CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. Kidney Int 53: 31-37, 1998
39. Cox JPD, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann L, Neuhaus T, Reid C, Williams PF, Wrong OM, Thakker RV: Renal chloride channel, CLCN5, mutations in Dent's disease. J Bone Miner Res 14: 1536-1542, 1999
40. Antonarakis SE, and the Nomenclature Working Group: Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11: 1-3, 1998