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

American Journal of Kidney Diseases

Volumn 46, Issue 1, 2005, Pages 52-57

  Lens, Xosé M ^a   Banet, Julio F ^a   Outeda, Patricia ^a   Barrio Lucía, Vicente ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

Familial juvenile hyperuricemic nephropathy; Glomerulocystic kidney disease; Medullary cystic kidney disease; Tamm Horsfall protein; Uromodulin

Indexed keywords

CALCIUM BINDING PROTEIN; CYSTEINE; EPIDERMAL GROWTH FACTOR; GLYCINE; TAMM HORSFALL GLYCOPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; MEDULLARY SPONGE KIDNEY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; UREMIA;

ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HAPLOTYPES; HUMANS; HYPERURICEMIA; LOD SCORE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUCOPROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SPAIN; SPECIES SPECIFICITY;

EID: 20544476406     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2005.04.003     Document Type: Article

References (27)

1. K. Christodoulou, M. Tsingis, C. Stavrou Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease Hum Mol Genet 7 1998 905 911
2. F. Scolari, D. Puzzer, A. Amoroso Identification of a new locus for medullary cystic kidney disease, on chromosome 16p12 Am J Hum Genet 64 1999 1655 1660
3. K. Dahan, A. Fuchshuber, S. Adamis Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 Two facets of the same disease? J Am Soc Nephrol 12 2001 2348 2357
4. T.C. Hart, M.C. Gorry, P.S. Hart Mutations of the UMOD gene are responsible for medullary cystic kidney disesase 2 and familial juvenile hyperuricaemic nephropathy J Med Genet 39 2002 882 892
5. K. Dahan, O. Devuyst, M. Smaers A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin J Am Soc Nephrol 14 2003 2883 2893
6. L. Rampoldi, G. Caridi, D. Santon Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics Hum Mol Genet 12 2003 3369 3384
7. C.K. Sharp, S.M. Bergman, J.M. Stockwin Dominantly transmitted glomerulocystic kidney disease A distinct genetic entity J Am Soc Nephrol 8 1997 77 84
8. R. Gusmano, G. Caridi, M. Marini Glomerulocystic kidney disease in a family Nephrol Dial Transplant 17 2002 813 818
9. W. Rezende-Lima, K.S. Parreira, M.A. García-González Homozygosity for uromodulin disorders (FJHN and MCKD-type 2) Kidney Int 66 2004 558 563
10. J.J.O. Turner, J.M. Stacey, B. Harding Uromodulin mutations cause familial juvenile hyperuricemic nephropathy J Clin Endocrinol Metab 88 2003 1398 1401
11. F. Scolari, G. Caridi, A. Amoroso Uromodulin storage diseases Clinical aspects and mechanisms Am J Kidney Dis 44 2004 987 999
12. S. Tinschert, N. Ruf, I. Bernascone Functional consequences of a novel mutation in a family with familial juvenile hyperuricaemic nephropathy Nephrol Dial Transplant 19 2004 3150 3154
13. J. Calado, A. Gaspar, C. Clemente, J. Rueff A novel heterozygous missense mutation in the UMOD gene responsible for familial juvenile hyperuricemic nephropathy BMC Med Genet 6 2005 5 8
14. M.T. Wolf, B.E. Mucha, M. Attanasio Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains Kidney Int 64 2003 1580 1587
15. E. Kudo, N. Kamatani, O. Tezuka Familial juvenile hyperuricemic nephropathy Detection of mutations in the uromodulin gene in five Japanese families Kidney Int 65 2004 1589 1597
16. W. Liu, C. Qian, K. Comeau Mutation fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome Hum Mol Genet 5 1996 1581 1587
17. A. Joutel, K. Vahedi, C. Corpechot Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients Lancet 350 1997 1511 1515
18. R.P. Colliton, L. Bason, F.M. Lu Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients Hum Mutat 17 2001 151 152
19. N. Enjolras, J.L. Plantier, M.H. Rodriguez Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion J Thromb Haemost 2 2004 1143 1154
20. D. Fass, S. Blacklow, P.S. Kim, J.M. Berger Molecular basis of familial hypercholesterolemia from structure of LDL receptor module Nature 388 1997 691 693
21. M. Fishelson, D. Geiger Exact genetic linkage computations for general pedigrees Bioinformatics 18 suppl 1 2002 S189 S198
22. S. Kumar Tamm-Horsfall protein-uromodulin (1950-1990) Kidney Int 37 1990 1395 1401
23. G.J. Puig, M.E. Miranda, F.A. Mateos Hereditary nephropathy associated with hyperuricemia and gout Arch Intern Med 153 1993 357 365
24. L. Jovine, H. Qi, Z. Williams The ZP domain is a conserved module for polymerization of extracellular proteins Nat Cell Biol 4 2002 457 461
25. H. Yang, C. Wu, S. Zhao Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy FEBS Lett 578 2004 236 238
26. C. Hession, J.M. Decker, A. Sheblom Uromodulin (Tamm-Horsfall glycoprotein) A renal ligand for lymphokines Science 237 1987 1429 1484
27. T.C. Sudhoff, J.L. Goldstein, M.S. Brown, D.W. Russell The LDL receptor gene A mosaic of exons shared with different proteins Science 8 1985 815 822