Three novel mutations of thePKD1 gene in Italian families with autosomal dominant polycystic kidney disease

Human MutationVolume 10, Issue 2 p. 164-167 Mutations in Brief Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease Alberto E. Turco, Corresponding Author Alberto E. Turco Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax: + 39-45-8098-180Search for more papers by this authorSandro Rossetti, Sandro Rossetti Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorElena Bresin, Elena Bresin Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorSabine Englisch, Sabine Englisch Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorStefano Corrà, Stefano Corrà Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorPier Franco Pignatti, Pier Franco Pignatti Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this author Alberto E. Turco, Corresponding Author Alberto E. Turco Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax: + 39-45-8098-180Search for more papers by this authorSandro Rossetti, Sandro Rossetti Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorElena Bresin, Elena Bresin Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorSabine Englisch, Sabine Englisch Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorStefano Corrà, Stefano Corrà Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this authorPier Franco Pignatti, Pier Franco Pignatti Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic “B. Roma”, I-37134 Verona, Italy; Fax +39-45-8098-180Search for more papers by this author First published: 08 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-KCitations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 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. Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2: 245– 248. Daoust MC, Reynolds DM, Bichet DG, Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733– 736. 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. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millàn JS, Gamble V, Harris PC (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 10: 151– 160. International PKD Consortium (1995) Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81: 289– 298. Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M, Battini G, Meroni M, Sessa A, Schiavano S, Pignatti PF, Turco AE (1994) 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 Mutat 3: 386– 390. Peral B, Gamble V, San Millan JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 4: 569– 574. Peral B, San Millan JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC (1996) Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 58: 86– 96. Rossetti S, Corrà S, Biasi MO, Turco AE, Pignatti PF (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: 195– 200. Rossetti S, Bresin E, Restagno G, Carbonara A, Corrà S, De Prisco O, Pignatti PF, Turco AE (1996) 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: (in press). Turco A, Peissel B, Gammaro L, Maschio G, Pignatti PF (1991) Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families. Clin Genet 40: 287– 297. Turco AE, Rossetti S, Bresin E, Corrà S, Gammaro L, Maschio G, Pignatti PF (1995) 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. Citing Literature Volume10, Issue21997Pages 164-167 ReferencesRelatedInformation