Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease

Nephrology Dialysis Transplantation

Volumn 11, Issue SUPPL. 6, 1996, Pages 10-12

  Turco, Alberto E ^a   Rossetti, Sandro ^a   Bresin, Elena ^a   Corrà, Stefano ^a   Restagno, Gabriella ^b   Carbonara, Angelo ^c   De Frisco, Ornella ^d   Gammaro, Linda ^e   Maschio, Giuseppe ^e   Pignatti, Pier Franco ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d USL 67 Nephrology and Dialysis Serv   (Italy)

^e UNIVERSITY OF VERONA   (Italy)

Author keywords

ADPKD; Mutation detection; Nonsense mutations; PCR; PKD1 gene

Indexed keywords

DNA; HETERODUPLEX; MESSENGER RNA;

AUTOSOMAL DOMINANT DISORDER; CONFERENCE PAPER; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; HUMAN; HUMAN CELL; ITALY; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION SITE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 12644270210     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/11.supp6.10     Document Type: Conference Paper

References (19)

1. Gabow PA. Autosomal dominant polycystic kidney disesase. N Engl J Med 1993; 329: 332-342
2. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 1993; 18: 467-472
3. Peters DJM, Spruit L, Saris JJ et al. Localization of a second gene for autosomal dominant polycystic kidney disease on chromosome 4. Nature Genet 1993; 5: 359-362
4. Daoust MC, Reynolds DM, Bichet DG, Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995; 25: 733-736
5. 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
6. 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
7. American PKD1 Consortium. 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 1995; 4: 575-582
8. International PKD Consortium. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 1995; 81:289-298
9. Hughes J, Ward CJ, Peral B et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 1995; 10: 151-160
10. Turco AE, Rossetti S, Bresin E et al. 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 1995; 4: 1331-1335
11. Rossetti S, Bresin E, Restagno G et al. 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 in press
12. Turco A, Peissel B, Gammaro L, Maschio G, Pignatti PE Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease (ADPKD), and for the determination of genetic heterogeneity in Italian families. Clin Genet 1991; 40: 287-297
13. Turco A, Peissel B, Quaia P, Morandi R, Bovicelli L, Pignatti PF. Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction. Prenatal Diagnosis 1992; 12: 513-524
14. Turco AE, Peissel B, Rossetti S et al. 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 1993; 47: 1225-1230
15. Peissel B, Rossetti S, Renieri A et al. A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. Hum Mut 1994; 3: 386-390
16. Peral B, Gamble V, San Millan JL et al. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 1995; 4: 569-574
17. Brook-Carter PT, Peral B, Ward CJ et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nature Genet 1994; 8: 328-332
18. Woo D. Apoptosis and loss of renal tissue in polycystic kidney diseases. N Engl J Med 1995; 333: 18-25
19. Cooper DN, Krawczak M. Human gene mutation. BIOS Scientific, Oxford, 1993; Ch. 6