A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds

Journal of the American Society of Nephrology

Volumn 9, Issue 10, 1998, Pages 1853-1860

  Pei, York ^a,g   He, Ning ^a   Wang, Kairong ^a   Kasenda, Margareth ^a   Paterson, Andrew D ^b   Chan, Gabrielle ^a   Liang, Yan ^c   Roscoe, Janet ^d   Brissenden, Jane ^d   Hefferton, Donna ^e   Parfrey, Patrick ^e   Somlo, Stefan ^f   George Hyslop, Peter S T ^c  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^f ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^g TORONTO GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 16P; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031660158     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Fick G, Gabow P: Hereditary and acquired cystic disease of the kidney. Kidney Int 46: 951-964, 1994
2. Harris PC, Ward CJ, Peral B, Hughes J: Polycystic kidney disease 1: Identification and analysis of the primary defect. J Am Soc Nephrol 6: 1125-1133, 1995
3. Parfrey P, Bear J, Morgan J, Cramer B, McManamon P, Gault H, Churchill D, Singh M, Hewitt R, Somlo S, Reeders S: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323: 1085-1090, 1990
4. Ravind D, Walker R, Gibson R, Forrest S, Richards R, Friend K, Sheffield L, Kincaid-Smith A, Danks D: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340: 1330-1333, 1992
5. Daoust MC, Reynolds DM, Bichet DG, Somlo S: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736, 1995
6. de Almeida S, de Almeida E, Peters D, Pinto J, Tavora I, Lavinha J, Breuning M, Prata M: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 96: 83-88, 1995
7. Hughes J, Ward C, Peral B, Aspinwall R, Clark K, San Millan J, Gamble V, Harris PC: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10: 151-160, 1995
8. International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81: 289-298, 1995
9. Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris JJ, Reynolds D, Cai Y, Gabow P, Pierides A, Kimberling W, Breuning M, Constantinou Deltas C, Peters D, Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342, 1996
10. Peral B, Gamble V, San Millan JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC: Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 5: 539-542, 1995
11. Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti P: A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 4: 1331-1335, 1995
12. Peral B, Ong ACM, San Millan JL, Gamble V, Rees L, Harris PC: A stable nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5: 539-542, 1996
13. Peral B, San Millan JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC: Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 58: 86-96, 1996
14. Neophytou P, Constantinides R, Lazarou A, Pierides A, Constantinou Deltas C: Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of an autosomal dominant polycystic kidney disease Cypriot family. Hum Genet 98: 437-442, 1996
15. Rossetti S, Bresin E, Restagno G, Carbonara A, Corra S, De Prisco O, Pignatti PF, Turco AE: Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene. Am J Med Genet 65: 155-159, 1996
16. Peral B, Gamble V, Strong C, Ong ACM, Sloan-Stanley J, Zerres K, Winearls C, Harris PC: Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach. Am J Hum Genet 60: 1399-1410, 1997
17. Watnick T, Piontek K, Cordal T, Weber H, Gandolph M, Qian F, Lens X, Neumann H, Germino G: An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum Mol Genet 6: 1473-1481, 1997
18. Snarey A, Thomas S, Schneider M, Pound S, Barton N, Wright A, Somlo S, Germino G, Harris P, Reeders S, Frischauf A: Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet 55: 365-371, 1994
19. San Millan J, Viribay M, Peral B, Martinez I, Weissenbach J, Moren F: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease. Am J Hum Genet 56: 248-253, 1995
20. Cockcroft D, Gault H: Prediction of creatinine clearance from serum creatinine. Nephron 16: 31-36, 1976
21. Miller S, Dykes D, Polesky H: Simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215, 1987
22. Hayashi T, Mochizuki T, Reynolds D, Wu Y, Cai Y, Somlo S: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44: 131-136, 1997
23. Veldhuisen B, Saris J, de Haij S, Hayashi T, Reynolds D, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk M, Coto E, Ravine D, Norby S, Verellen-Dumoulin C, Breuning M, Somlo S, Peters D: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61: 547-555, 1997
24. Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds D, Alonso R, Lens X, Moreno F, Harris P, Somlo S, San Millan J: Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 101: 229-234, 1997
25. Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC: A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2). Hum Mol Genet 6: 949-952, 1997
26. Pei Y, Wang K, Kasenda M, Peterson A, Lian J, Liang Y, Rogovea E, Somlo S, St George-Hyslop P: A novel translational frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int 53: 1127-1132, 1998
27. Farber R, Petes T, Dominska M, Hudgens S, Liskay M: Instability of simple sequence repeats in a mammalian cell line. Hum Mol Genet 3: 253-256, 1994
28. Strachan T, Read A: Mutation and instability of human DNA. In: Human Molecular Genetics, Oxford, BIOS Scientific Publishers, Ltd., 1996, pp 252-255
29. Mahtani M, Willard H: A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutations: Implication for mechanisms of mutation at short tandem repeat locus. Hum Mol Genet 2: 431-437, 1993
30. Narayanan L, Fritzell J, Baker S, Laikay M, Glazer P: Elevated levels of mutations in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2. Proc Natl Acad Sci USA 94: 3122-3127, 1997
31. Markowitz S, Wang J, Myeroff L, Parsons R, Sun LZ, Lutterbaugh J, Fan R, Zborowska E, Kinzler K, Vogelstein B, Braiiain M, Willson J: Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 268: 1336-1338, 1995
32. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed J: Somatic frameshift mutations in the Bax gene in colon cancers of the microsatellite mutator phenotype. Science 275: 967-969, 1997
33. Qian F, Germino J, Cai Y, Zhang XB, Somlo S, Germino G: GPKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 16: 179-183, 1997
34. Tsiokas L, Kim E, Arnould T, Sukhatme V, Walz G: Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94: 6965-6970, 1997
35. Wu GQ, D'Agati V, Cai YQ, Markowitz S, Park JH, Reynolds D, Maeda Y, Le TC, Hou H, Kucherlapati R, Edelmann W, Somlo S: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 93: 177-188, 1998