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

Human Molecular Genetics

Volumn 4, Issue 8, 1995, Pages 1331-1335

  Turco, Alberto E ^a   Rossetti, Sandro ^a   Bresin, Elena ^a   Corra, Stefano ^a   Gammaro, Linda ^a   Maschio, Giuseppe ^a   Pignatti, Pier Franco ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; NUCLEOTIDE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENETIC LINKAGE; HUMAN; ITALY; KIDNEY POLYCYSTIC DISEASE; LEUKOCYTE; MOLECULAR CLONING; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

ADULT; AGED; BASE SEQUENCE; CLONING, MOLECULAR; CODON, NONSENSE; DNA PRIMERS; FEMALE; HUMAN; ITALY; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0029149637     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.8.1331     Document Type: Article

References (20)

1. Gabow, P. (1991) Polycystic kidney disease: clues to pathogenesis. Kidney Int. 40, 989-996.
2. Kimberling, W.J., Kumar, S., Gabow, P.A., Kenyon, J.B., Connolly, C.J. and Somlo, S. (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome ql3-q23. Genomics 18, 467-472.
3. Peters, D.J.M., Spruit, L., Saris, J.J., Ravine, D., Sandkujil, L.A., Fossdal, R., Boersma, J., van Ejik, R., Norby, S., Constantinou-Deltas, C.D., Pierides, A., Brissenden, J.E., Frants, R.R., van Ommen, G.J.B. and Breuning, M.H. (1993) Localization of a second gene for autosomal dominant polycystic kidney disease on chromosome 4. Nature Genet. 5, 359-362.
4. Daoust, M.C., Bichet, D.G. and Somlo, S. (1993) A French-Canadian family with autosomal dominant polycystic kidney disease unlinked to ADPKD1 and ADPKD2. J. Am. Soc. Nephrol. 4, 262.
5. The European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77, 881-894.
6. Peral, B., Gamble, V., San Millan, J.L., Strong, C, Sloane-Stanley, J., Moreno, F. and Harris, P.C. (1995) Splicing mutations of the polycystic kidney disease 1 (PKDI) gene induced by intronic deletion. Hum. Mol. Genet. 4, 569-574.
7. Brook-Carter, P.T., Peral, B., Ward, C.J., Thompson, P., Hughes, J., Maheshwar, M.M., Nellist, M., Gamble, V., Harris, P.C. and Sampson, J.R. (1994) Deletion of the TSC2 and PKDI genes associated with severe infantile polycystic kidney disease—a contiguous gene syndrome. Nature Genet. 8, 328-332.
8. Turco, A., Peissel, B., Gammaro, L., Maschio, G. and Pignatti, P.F. (1991) Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease (ADPKD), and for the determination of genetic heterogeneity in Italian families. Clin. Genet. 40, 287-297.
9. Turco, A.E., Rossetti, S., Peissel, B., Gammaro, L., Maschio, G. and Pignatti, P.F. (1995) Clinical applications of genetic linkage analysis for the molecular diagnostics of autosomal dominant polycystic kidney disease, using DNA markers linked to the PKDI and PKD2 genes. Contrib. Nephrol. 115, (in press).
10. Keen, J. (1991) Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet. 7, 5.
11. Renieri, A., Galli, L., De Marchi, M., Lupo, A., Maschio, G., Li Void, S., Mollica, F., Peissel, B., Rossetti, S., Pignatti, P.F. and Turco, A.E. (1994) Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome. Hum. Mol. Genet. 3, 201-202.
12. Grompe, M. (1993) The rapid detection of unknown mutations in nucleic acids. Nature Genet. 3, 172-179.
13. Rossetti, S., Corra, S., Biasi, M.O., Turco, A.E. and Pignatti, P.F. (1995) Comparison of heteroduplex and single strand conformation analyses followed by ethidium fluorescence visualization, for the detection of mutations in four human genes. Mol. Cell. Probes 9, (in press).
14. McIntosh, L, Hamosh, A. and Dietz, H.C. (1993) Nonsense mutations and diminished mRNA levels. Nature Genet. 4, 219.
15. Dietz, H.C., Valle, D., Francomano, C.A., Kendzior, R.J., Jr., Pyeritz, R.E. and Cutting, G.R. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259, 680-683.
16. Zhang, Z-X., Wakamatsu, N., Mules, E.H., Thomas, G.H. and Gravel, R.A. (1994) Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. Hum. Mol. Genet. 3, 139-145.
17. Turco, A., Peissel, B., Quaia, P., Morandi, R., Bovicelli, L. and Pignatti, P.F. (1992) Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction. Prenat. Diagn. 12, 513-524.
18. Turco, A.E., Peissel, B., Rossetti, S., Selicomi, A., Galimberti, A., Tassis, B., Brusasco, A., Manoukian S., Tadini, G., Turolla, L., Tenconi, R and Pignatti, P.F. (1993) Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. Am. J. Med. Genet. 47, 1225-1230.
19. Prior, T.W., Papp, A.C., Snyder, P.J., Burghes, A.H.M., Sedra, M.S., Western, L.M., Bartello, C. and Mendell, J.R. (1993) Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum. Mol. Genet. 2, 311-313.
20. Peissel, B., Rossetti, S., Renieri, A., Galli, L., De Marchi, M., Battini, G., Meroni, M., Sessa, A., Schiavano, S., Pignatti, P.F. and Turco, A.E. (1994) A novel frameshift deletion in type IV collagen 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. Hum. Mutat. 3, 386-390.