Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Clinical Journal of the American Society of Nephrology

Volumn 9, Issue 3, 2014, Pages 527-535

  Bleyer, Anthony J ^a   Kmoch, Stanislav ^a   Antignac, Corinne ^a   Robins, Vicki ^a   Kidd, Kendrah ^a   Kelsoe, John R ^a   Hladik, Gerald ^a   Klemmer, Philip ^a   Knohl, Stephen J ^a   Scheinman, Steven J ^a   Vo, Nam ^a   Santi, Ann ^a   Harris, Alese ^a   Canaday, Omar ^a   Weller, Nelson ^a   Hulick, Peter J ^a   Vogel, Kristen ^a   Rahbari Oskoui, Frederick F ^a   Tuazon, Jennifer ^a   Deltas, Constantinos ^a   Somers, Douglas ^a   Megarbane, Andre ^a   Kimmel, Paul L ^a   Sperati, C John ^a   Orr Urtreger, Avi ^a   Ben Shachar, Shay ^a   Waugh, David A ^a   Mcginn, Stella ^a   Bleyer Jr , Anthony J ^a   Hodaňová, Katerina ^a   Vyletal, Petr ^a   Živná, Martina ^a   Hart, Thomas C ^a   Hart, P Suzanne ^a   more..

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUCIN 1; RENIN; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ARTICLE; CHROMOSOME 1; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPING TECHNIQUE; GLOMERULUS FILTRATION RATE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDULLARY SPONGE KIDNEY; MIDDLE AGED; MUTATIONAL ANALYSIS; URINALYSIS; VARIABLE NUMBER OF TANDEM REPEAT;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUCIN-1; MUTATION; PEDIGREE; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; REGISTRIES; RETROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS; TIME FACTORS; YOUNG ADULT;

EID: 84896813347     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.06380613     Document Type: Article

References (17)

1. Bleyer AJ, Zivná M, Kmoch S: Uromodulin-associated kidney disease. Nephron Clin Pract 118: c31-c36, 2011
2. Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, 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
3. Bleyer AJ, Hart PS, Kmoch S: Hereditary interstitial kidney disease. Semin Nephrol 30: 366-373, 2010
4. Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis P, Iounnou P, Pierides A, Constantinou Deltas C: Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 7: 905-911, 1998
5. Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Ruschendorf F, Feest T, Hildebrandt F: Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. Genomics 72: 278-284, 2001
6. Wolf MTF, Karle SM, Schwarz S, Anlauf M, Anlauf M, Glaeser L, Kroiss S, Burton C, Feest T, Otto E, Fuchshuber A, Hildebrandt F: Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. Kidney Int 64: 788-792, 2003
7. Wolf MTF, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F: Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int 66: 580-585, 2004
8. Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ: Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 45: 299-303, 2013
9. Patton S, Gendler SJ, Spicer AP: The epithelial mucin, MUC1, of milk, mammary gland and other tissues. Biochim Biophys Acta 1241: 407-423, 1995
10. Pemberton LF, Rughetti A, Taylor-Papadimitriou J, Gendler SJ: The epithelial mucin MUC1 contains at least two discrete signals specifying membrane localization in cells. J Biol Chem 271: 2332-2340, 1996
11. Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC: Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families. Kidney Int 62: 1385-1394, 2002
12. Kiser RL, Wolf MTF, Martin JL, Zalewski I, Attanasio M, Hildebrandt F, Klemmer P: Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis 44: 611-617, 2004
13. Kimmel RJ, Kovacs I, Vrabel C, Wood B, Schalling M, Kelsoe JR: Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. Am J Psychiatry 162: 1972-1974, 2005
14. Auranen M, Ala-Mello S, Turunen JA, Jarvela I: Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. Kidney Int 60: 1225-1232, 2001
15. Levey AS, Stevens LA, Schmid CH, Zhang YL, Castro AF 3rd, Feldman HI, Kusek JW, Eggers P, Van Lente F, Greene T, Coresh J; CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration): A new equation to estimate glomerular filtration rate. Ann Intern Med 150: 604-612, 2009
16. Braithwaite D, Zhu W, Hubbard RA, O'Meara ES, Miglioretti DL, Geller B, Dittus K, Morre D, Wernli KJ, Mandelblatt J, Kerlikowske K; Breast Cancer Surveillance Consortium: Screening outcomes in older US women undergoing multiple mammograms in community practice: Does interval, age, or comorbidity score affect tumor characteristics or false positive rates. J Natl Cancer Inst 105: 334-341, 2013
17. Hildebrandt F, Omram H: New insights: Nephronophthisismedullary cystic kidney disease. Pediatr Nephrol 16: 168-176, 2001