Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1561-1571

  Watnick, Terry ^a   Phakdeekitcharoen, Bunyong ^a   Johnson, Ann ^c   Gandolph, Michael ^a   Wang, Mei ^d   Briefel, Gary ^b   Klinger, Katherine W ^e   Kimberling, William ^d   Gabow, Patricia ^c   Germino, Gregory G ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS BAYVIEW MEDICAL CENTER   (United States)

^c UNIVERSITY OF COLORADO   (United States)

^d Boys Town National Research Hospital   (United States)

^e GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16; FAMILIAL INCIDENCE; GENE CLUSTER; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRACRANIAL ANEURYSM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

EID: 0033358584     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302657     Document Type: Article

References (28)

1. American PKD1 Consortium (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575-582
2. Brasier RL, Henske EP (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss of function model for cyst pathogenesis. J Clin Invest 99:194-199
3. Brook-Carter PT, Peral B, Ward CJ, Thompson R, Hughes J, Maheshwar MM, Nellist M, et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8:328-332
4. Bycroft M, Bateman A, Clark J, Hamill SJ, Sanford R, Thomas RL, Chothia C (1999) The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. EMBO J 18:297-305
5. Ceccherini I, Persici P, Pezzolo A, Rocchi M, Breuning MH, Himmelbauer H, Frischauf A-M, et al (1992) Construction of a fine structure map of chromosome 16 by using radiation hybrids. Proc Natl Acad Sci USA 89:104-108
6. Chapman AB, Rubinstein D, Hughes R, Stears JC, Earnest MP, Johnson AM, Gabow PA, et al (1992) Intracranial aneurysms in autosomal dominant polycystic kidney disease. New Engl J Med 327:916-920
7. European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-894
8. Fick GM, Johnson AM, Strain JD, Kimberling WJ, Kumar S, Manco-Johnson ML, Duley IT, et al (1993) Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol 3:1863-1870
9. Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco-Johnson M, Lezotte DC, Schrier RW (1989) The clinical utility of renal concentrating capacity in polycystic kidney disease. Kidney Int 35:675-680
10. Germino GG, Barton NJ, Lamb J, Higgs DR, Harris P, Scherer G, Nakamura Y, et al (1990) Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet 46:925-933
11. Germino GG, Weinstat-Saslow D, Himmelhauer H, Gillespie GAJ, Somlo S, Wirth B, Barton N, et al (1992) The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13:144-151
12. Hateboer N, Lazarou LP, Williams AJ, Holmans P, Ravine D (1999) Familial phenotype differences in PKD1. Kidney Int 56:34-40
13. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL Gamble V, et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-160
14. International Polycystic Kidney Disease Consortium (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81:289-298
15. Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Deltas CC (1999) Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8:509-513
16. Peral B, Gamble V, Strong C, Ong ACM, Sloane-Stanley J, Zerres K, Winearls C, et al (1997) Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 60: 1399-1410
17. Peral B, Ong AC, San Millan JL, Gamble V, Rees L, Harris PC (1996) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5:539-542
18. Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87:979-987
19. Roelfsema, JH, Spruit L, Saris JJ, Chang P, Pirson Y, van Ommen GJB, Peters DJM, et al (1997) Mutation detection in the repeated part of the PKD1 gene. Am J Hum Genet 61: 1044-1052
20. Sandford R, Sgotto B, Aparicio S, Brenner S, Vaudin M, Wilson RK, Chissoe S, et al (1997) Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 6:1483-1489
21. Shoffner JM (1998) Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (eds) Current protocols in human genetics 9, clinical molecular genetics. John Wiley & Sons, New York, pp 9.9.1-9.9.26
22. Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R (1999) Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. Am J Hum Genet 65:39-49
23. Thongnoppakhun W, Wilairat P, Kriengsak V, Yenchitsomanus P (1999) Long RT-PCR amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene. Biotechniques 26:126-132
24. Van Raay TJ, Burn TC, Connors TD, Petry LR, Germino GG, Klinger KW, Landes GM (1996) A 2.5kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences. Microb Comp Genet 1:317-327
25. Watnick TJ, Gandolph MA, Weber H, Neumann HPH, Germino GG (1998a) Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 7:1239-1243
26. Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, et al (1997) 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
27. Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, et al (1998b) Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2:247-251
28. Zerres K, Rudnik-Schoneborn S, Deget F, members of the German working group on paediatric nephrology (1993) Childhood onset autosomal dominant polycystic kidney diseas in sibs: clinical picture and recurrence risk. J Med Genet 30:583-588