Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families

Kidney International

Volumn 85, Issue 2, 2014, Pages 383-392

  Paul, Binu M ^a   Consugar, Mark B ^a   Ryan Lee, Moonnoh ^b   Sundsbak, Jamie L ^a   Heyer, Christina M ^a   Rossetti, Sandro ^a   Kubly, Vickie J ^a   Hopp, Katharina ^a,b   Torres, Vicente E ^a   Coto, Eliecer ^c   Clementi, Maurizio ^d   Bogdanova, Nadja ^e   De Almeida, Edgar ^f   Bichet, Daniel G ^g   Harris, Peter C ^a,b  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c Hospital Universitario Central   (Spain)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f Hospital Beatriz ngelo   (Portugal)

^g UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

ADPKD; molecular genetics; polycystic kidney disease

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; BULGARIAN; CANADIAN; CONFERENCE PAPER; DISEASE COURSE; ETHNIC GROUP; EXON; FAMILY STUDY; FRENCH CANADIAN; GENE; GENE FREQUENCY; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; ITALIAN; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; PKD1 GENE; PKD2 GENE; PKD3 GENE; PORTUGUESE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPANISH;

ADOLESCENT; ADULT; AGED; CANADA; CHILD; DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; EUROPE; FALSE POSITIVE REACTIONS; FEMALE; GENETIC LINKAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAPLOTYPES; HEREDITY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PREDICTIVE VALUE OF TESTS; TRPP CATION CHANNELS; YOUNG ADULT;

EID: 84893266233     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2013.227     Document Type: Conference Paper

References (52)

1. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369: 1287-1301
2. Harris PC, Torres VE. Polycystic kidney disease, autosomal dominant. In: Pagon RA, Bird TD, Dolan CR et al. (eds) GeneReviewst [Internet] Seattle (WA). University of Washington: Seattle, WA, USA, 2011
3. Reeders ST, Breuning MH, Davies KE et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985; 317: 542-544
4. The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77: 881-894
5. The International Polycystic Kidney Disease Consortium. Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 1995; 81: 289-298
6. Hughes J, Ward CJ, Peral B et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995; 10: 151-160
7. Loftus BJ, Kim UJ, Sneddon VP et al. Genome duplications and other features in 12Mb of DNA sequence from human chromosome 16p and 16q. Genomics 1999; 60: 295-308
8. Peters DJ, Spruit L, Saris JJ et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 1993; 5: 359-362
9. Kimberling WJ, Kumar S, Gabow PA et al. Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 1993; 18: 467-472
10. Mochizuki T, Wu G, Hayashi T et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996; 272: 1339-1342
11. Harris PC, Torres VE. Polycystic kidney disease. Ann Rev Med 2009; 60: 321-337
12. Qian F, Boletta A, Bhunia AK et al. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomaldominant polycystic kidney disease 1-Associated mutations. Proc the Natl Acad Sci USA 2002; 99: 16981-16986
13. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. New Engl J Med 2011; 364: 1533-1543
14. Rossetti S, Consugar MB, Chapman AB et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2007; 18: 2143-2160
15. Audrezet MP, Cornec-Le Gall E, Chen JM et al. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mut 2012; 33: 1239-1250
16. Hateboer N, v Dijk MA, Bogdanova N et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999; 353: 103-107
17. Daoust MC, Reynolds DM, Bichet DG et al. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995; 25: 733-736
18. de Almeida S, de Almeida E, Peters D et al. Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995; 96: 83-88
19. Bogdanova N, Dworniczak B, Dragova D et al. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 1995; 95: 645-650
20. Turco AE, Clementi M, Rossetti S et al. An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis 1996; 28: 759-761
21. Ariza M, Alvarez V, Marin R et al. A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet 1997; 34: 587-589
22. de Almeida E, Martins Prata M, de Almeida S et al. Long-Term follow-up of a family with autosomal dominant polycystic kidney disease type 3. Nephrol Dial Transplant 1999; 14: 631-634
23. Pei Y, Paterson AD, Wang KR et al. Bilineal disease and transheterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 2001; 68: 355-363
24. Pei Y, Lan Z, Wang K et al. A missense mutation in PKD1 attenuates the severity of renal disease. Kidney Int 2012; 81: 412-417
25. Rossetti S, Kubly VJ, Consugar MB et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int 2009; 75: 848-855
26. Connor A, Lunt PW, Dolling C et al. Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Am J Transplant 2008; 8: 232-237
27. Faguer S, Decramer S, Chassaing N et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80: 768-776
28. Bataille S, Berland Y, Fontes M et al. High resolution melt analysis for mutation screening in PKD1 and PKD2. BMC Nephrol 2011; 12: 57
29. Gout AM, Martin NC, Brown AF et al. PKDB: Polycystic Kidney Disease Mutation Database-gene variant database for autosomal dominant polycystic kidney disease. Hum Mut 2007; 28: 654-659
30. Paterson AD, Pei Y. Is there a third gene for autosomal dominant polycystic kidney disease? Kidney Int 1998; 54: 1759-1761
31. Paterson AD, Pei Y. PKD3-To be or not to be? Nephrol Dial Transplant 1999; 14: 2965-2966
32. Li A, Tian X, Sung SW et al. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. Genomics 2003; 81: 596-608
33. Perrichot R, Mercier B, Quere I et al. Novel mutations in the duplicated region of PKD1 gene. Eur J Hum Genet 2000; 8: 353-359
34. Irazabal MV, Huston J 3rd, Kubly V et al. Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2011; 6: 1274-1285
35. Hopp K, Ward CJ, Hommerding CJ et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest 2012; 122: 4257-4273
36. Nyunt O, Wu JY, McGown IN et al. Investigating maturity onset diabetes of the young. Clin Biochem Rev 2009; 30: 67-74
37. Bellanne-Chantelot C, Clauin S, Chauveau D et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54: 3126-3132
38. Yorifuji T, Fujimaru R, Hosokawa Y et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-Type diabetes mellitus. Ped Diabetes 2012; 13: 26-32
39. Rossetti S, Strmecki L, Gamble V et al. Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications. Am J Hum Genet 2001; 68: 46-63
40. Reed B, McFann K, Kimberling WJ et al. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. Am J Kidney Dis 2008; 52: 1042-1050
41. Consugar MB, Wong WC, Lundquist PA et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008; 74: 1468-1479
42. Hwang Y-H, Campbell K, Borgo AC et al. Complex genetic inheritance underpinning a family with putative PKD3. J Am Soc Nephrol 2012; 23: 700A
43. Pei Y, Obaji J, Dupuis A et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009; 20: 205-212
44. Nascimento AB, Mitchell DG, Zhang XM et al. Rapid MR imaging detection of renal cysts: Age-based standards. Radiology 2001; 221: 628-632
45. Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by spiral computed tomography. Clin Radiol 2003; 58: 626-629
46. Rule AD, Sasiwimonphan K, Lieske JC et al. Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors. Am J Kidney Dis 2012; 59: 611-618
47. Watnick TJ, Gandolph MA, Weber H et al. Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 1998; 7: 1239-1243
48. Rossetti S, Hopp K, Sikkink RA et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol 2012; 23: 915-933
49. Peral B, Ward CJ, San Millan JL et al. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 1994; 54: 899-908
50. Consugar MB, Anderson SA, Rossetti S et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis 2005; 45: 77-87
51. Dowdle WE, Robinson JF, Kneist A et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet 2011; 89: 94-110
52. Ferrie RM, Schwarz MJ, Robertson NH et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992; 51: 251-262 Diseases