Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Scientific Reports

Volumn 6, Issue , 2016, Pages

  Carrera, Paola ^a   Calzavara, Silvia ^a   Magistroni, Riccardo ^a,b   Den Dunnen, Johan T ^c   Rigo, Francesca ^a   Stenirri, Stefania ^a   Testa, Francesca ^b   Messa, Piergiorgio ^d   Cerutti, Roberta ^d   Scolari, Francesco ^e   Izzi, Claudia ^e   Edefonti, Alberto ^d   Negrisolo, Susanna ^f   Benetti, Elisa ^g   Alibrandi, Maria Teresa Sciarrone ^h   Manunta, Paolo ^h   Boletta, Alessandra ^a   Ferrari, Maurizio ^a,h  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e SPEDALI CIVILI   (Italy)

^f Laboratory of Immunopathology and Molecular Biology of the Kidney   (Italy)

^g Department of Paediatrics   (Italy)

^h VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIC KIDNEY DISEASE 2 PROTEIN; POLYCYSTIN;

ADOLESCENT; ADULT; ALLELE; COHORT ANALYSIS; DIAGNOSTIC IMAGING; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; HUMAN; ITALY; KIDNEY; KIDNEY POLYCYSTIC DISEASE; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; COHORT STUDIES; FEMALE; GENE FREQUENCY; HUMANS; ITALY; KIDNEY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMORPHISM, GENETIC; TRPP CATION CHANNELS; YOUNG ADULT;

EID: 84981165068     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep30850     Document Type: Article

References (30)

1. Torres, V. E., Harris, P. C., Pirson, Y. Autosomal dominant polycystic kidney disease. The Lancet 369, 1287-1301 (2007).
2. Bergmann, C., Zerres, K. Early manifestations of polycystic kidney disease. The Lancet 369, 2157 (2007).
3. Bergmann, C., Ortiz Bruchle, N., Frank, V., Rehder, H., Zerres, K. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N. Engl. J. Med. 359, 318-319 (2008).
4. Rossetti, S. et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 75, 848-855 (2009).
5. Vujic, M. et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J. Am. Soc. Nephrol. 21, 1097-1102 (2010).
6. Cornec-Le Gall, E. et al. Type of PKD1 mutation influences renal outcome in ADPKD. J. Am. Soc. Nephrol. 24, 1006-1013 (2013).
7. Phakdeekitcharoen, B., Watnick, T. J., Germino, G. G. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J. Am. Soc. Nephrol. 12, 955-963 (2001).
8. Rossetti, S. et al. A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. 61, 1588-1599 (2002).
9. Audrezet, M. P. et al. Autosomal Dominant Polycystic Kidney Disease. Comprehensive Mutation Analysis of PKD1 and PKD2 in 700 Unrelated Patients. Hum. Mutat. 33, 1239-1250 (2012).
10. Rossetti, S. et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney diasease. J. Am. Soc. Nephrol. 18, 2143-2160 (2007).
11. Hwang, Y.-H. et al. Refining genotype-phenotype correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 27, doi: 10.1681/ASN.2015060648 (2015).
12. Heyer C. M. et al. Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotypes correlations in Autoosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 27, doi: 10.1681/ASN2015050583 (2016).
13. Velinov, M. et al. Polycystic kidneys and del(4)(q21.1q21.3): further delineation of a distinct phenotype. Eur. J. Med. Genet. 48, 51-55 (2005).
14. Consugar, M. B. et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 74, 1468-1479 (2008).
15. Ariyurek, Y. et al. Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum. Mutat. 23, 99 (2004).
16. Fokkema, I. F. et al. LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat. 32, 557-563 (2011).
17. Thompson, B. A. et al. Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat. Genet. 46, 107-115 (2013).
18. Pei, Y. et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J. Am. Soc. Nephrol. 20, 205-212 (2009).
19. Pei, Y. et al. Imaging-based diagnosis of autosomal dominant polycistic kidney disease. J Am Soc Nephrol 26, 746-53 (2015).
20. Tavtigian, S. V., Greenblatt, M. S., Lesueur, F., Byrnes, G. B. In silico analysis of missense substitutions using sequence-alignment based methods. Hum. Mutat. 29, 1327-1336 (2008).
21. Sunyaev, S. R. et al. PSIC: profile extraction from sequence alignments with position-specific counts of independent observations. Protein. Eng. 12, 387-394 (1999).
22. Ramensky, V., Bork, P., Sunyaev, S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30, 3894-3900 (2002).
23. Ng, P. C., Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
24. Ng, P. C., Henikoff, S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12, 436-46 (2002).
25. Schwarz, J. M., Rodelsperger, C., Schuelke, M., Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010).
26. Pollard, K. et al. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 20, 110-121 (2010).
27. Siepel, A., Haussler, D., Phylogenetic hidden Markov models. In Nielsen, R. ed., Statistical Methods in Molecular Evolution, pp. 325-351, Springer, New York. (2005).
28. Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, yeast genomes. Genome Res. 15, 1034-1050 (2005).
29. Vihinen, M., den Dunnen, J. T., Dalgleish, R., Cotton, R. G. Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305 (2012).
30. Köhler, S. et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acid Research 42, D966-74 (2014).