Characterization of a recurrent In-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure

Clinical Journal of the American Society of Nephrology

Volumn 6, Issue 12, 2011, Pages 2766-2774

  Smith, Graham D ^a   Robinson, Caroline ^a   Stewart, Andrew P ^a   Edwards, Emily L ^a   Karet, Hannah I ^a   Norden, Anthony G W ^a   Sandford, Richard N ^a   Frankl, Fiona E Karet ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; TAMM HORSFALL GLYCOPROTEIN;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CELL MIGRATION; CELL SECRETION; CLINICAL ARTICLE; CULTURE MEDIUM; ENDOPLASMIC RETICULUM; FEMALE; GOUT; GROUPS BY AGE; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERURICEMIA; IN VITRO STUDY; INDEL MUTATION; KIDNEY FAILURE; MALE; MORTALITY; PHENOTYPE; RECURRENT DISEASE; SEQUENCE ANALYSIS;

ADULT; AGED; FEMALE; HEK293 CELLS; HUMANS; INDEL MUTATION; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; PROTEIN STRUCTURE, TERTIARY; RECURRENCE; UROMODULIN;

EID: 83155182905     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.06820711     Document Type: Article

References (30)

1. Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, Futreal PA, Rahman N: Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. Kidney Int 60: 1233-1239, 2001
2. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882-892, 2002
3. Zivná, M, Hulková, H, Matignon M, Hodanová, K, Vylet'al P, Kalbácová, M, Baresová, V, Sikora J, Blazková, H, Zivný, J, Ivánek R, Stránecký, V, Sovová, J, Claes K, Lerut E, Fryns, J-P, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc, J-M, Gübler, M-C, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S: Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 85: 204-213, 2009
4. Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT: Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation. Kidney Int 63: 1645-1651, 2003
5. Piret S, Danoy P, Dahan K, Reed A, Pryce K, Wong W, Torres R, Puig J, Müller T, Kotanko P, Lhotta K, Devuyst O, Brown M, Thakker R: Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet 129: 51-58, 2011
6. Parsons CL, Bautista SL, Stein PC, Zupkas P: Cyto-injury factors in urine: A possible mechanism for the development of interstitial cystitis. J Urol 164: 1381-1384, 2000
7. Orskov I, Ferencz A, Orskov F: Tamm-Horsfall protein or uromucoid is the normal urinary slime that traps type 1 fimbriated Escherichia coli. Lancet 315: 887, 1980
8. Mo L, Huang, H-Y, Zhu, X-H, Shapiro E, Hasty DL, Wu, X-R: Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. Kidney Int 66: 1159-1166, 2004
9. Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CWA, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MTF: Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 19: 1985-1997, 2010
10. Gersch MS, Sautin YY, Gersch CM, Henderson G, Bankir L, Johnson RJ: Does Tamm-Horsfall protein-uric acid binding play a significant role in urate homeostasis? Nephrol Dial Transplant 21: 2938-2942, 2006
11. Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L: Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 7: 1567-1579, 2006
12. Jennings P, Aydin S, Kotanko P, Lechner J, Lhotta K, Williams S, Thakker RV, Pfaller W: Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol 18: 264-273, 2007
13. Williams SE, Reed AAC, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV: Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 18: 2963-2974, 2009
14. Köttgen A, Hwang, S-J, Larson MG, Van Eyk JE, Fu Q, Benjamin EJ, Dehghan A, Glazer NL, Kao WHL, Harris TB, Gudnason V, Shlipak MG, Yang Q, Coresh J, Levy D, Fox CS: Uromodulin levels associate with a common UMOD variant and risk for Incident CKD. J Am Soc Nephrol 21: 337-344, 2010
15. Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12: 3369-3384, 2003
16. Phyre, version 0.2. http://www.sbg.bio.ic.ac.uk/_phyre/. Accessed September 26, 2011.
17. The nFOLD3 Protein Fold Recognition Server. http:// www.reading.ac.uk/bioinf/nFOLD/. Accessed September 26, 2011.
18. Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, Rastaldi MP, Devuyst O, Rampoldi L: A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. Hum Mol Genet 19: 2998-3010, 2010
19. Wolf MTF, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HPH, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F: Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 64: 1580-1587, 2003
20. Wolf MTF, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F: The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. Kidney Int 71: 574-581, 2007
21. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux, J-M, Viron B, Jacquot C, Gagnadoux, M-F, Chauveau D, Büchler M, Cochat P, Cosyns, J-P, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14: 2883-2893, 2003
22. Lens XM, Banet JF, Outeda P, Barrio-Lucía V: A novel pattern of mutation in uromodulin disorders: Autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kid Dis 46: 52-57, 2005
23. Turner JJO, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV: Uromodulin mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab 88: 1398-1401, 2003
24. Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S: Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem 286: 2224-2235, 2011
25. Kemter E, Rathkolb B, Bankir L, Schrewe A, Hans W, Landbrecht C, Klaften M, Ivandic B, Fuchs H, Gailus-Durner V, Hrabé de Angelis M, Wolf E, Wanke R, Aigner B: Mutation of the Na+-K+-2Cl-cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia. Am J Physiol Renal Physiol 298: F1405-F1415, 2010
26. Kemter E, Rathkolb B, Rozman J, Hans W, Schrewe A, Landbrecht C, Klaften M, Ivandic B, Fuchs H, Gailus-Durner V, Klingenspor M, de Angelis MH, Wolf E, Wanke R, Aigner B: Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism. Am J Physiol Renal Physiol 297: F1391-F1398, 2009
27. Simmonds HA, McBride MB, Hatfield PJ, Graham R, Mccaskey J, Jackson M: Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. Br J Rheumatol 33: 932-937, 1994
28. McBride MB, Rigden S, Haycock GB, Dalton N, Van't Hoff W, Rees L, Venkat Raman G, Moro F, Ogg CS, Cameron JS, Simmonds HA: Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. Pediatr Nephrol 12: 357-364, 1998
29. Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SPA, Rees L, Van't Hoff W, Mansell M, Pattison J, Goldsmith DJA, Simmonds HA: Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. Quart J Med 95: 597-607, 2002
30. Simmonds HACJ, Goldsmith DJ, Fairbanks LD, Raman GV: Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. Nucleoside Nucleotide Nucleic Acids 25: 1071-1075, 2006