Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele

BMC Nephrology

Volumn 14, Issue 1, 2013, Pages

  Reiterová, Jana ^a   Štekrová, Jitka ^a   Merta, Miroslav ^a   Kotlas, Jaroslav ^a   Elišáková, Veronika ^a   Lněnička, Petr ^a   Korabečná, Marie ^a   Kohoutová, Milada ^a   Tesař, Vladimír ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Autosomal dominant polycystic kidney disease; Hypomorphic allele; Kidney transplantation; Mosaicism; PKD1 gene; PKD2 gene

Indexed keywords

ANGIOTENSIN 1 RECEPTOR ANTAGONIST; ARGININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; METHIONINE; POLYCYSTIN 1; POLYCYSTIN 2; THREONINE; VALINE; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN;

ADULT; AGED; ALLELE; ARTICLE; BLOOD CHEMISTRY; CASE REPORT; CHOLECYSTECTOMY; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FAMILY; FATHER; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HYPERTENSION; KIDNEY DONOR; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; LIVER CYST; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; MOSAICISM; MOTHER; MUTATIONAL ANALYSIS; RENOGRAPHY; GENETICS; MIDDLE AGED; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

ADULT; AGED; ALLELES; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MOSAICISM; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; TRPP CATION CHANNELS;

EID: 84874940108     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-14-59     Document Type: Article

References (16)

1. Comparison of phenotype of polycystic kidney disease types 1 and 2. Hataboer N, van Dijk MA, Bogdanova N, Lancet 1999 353 103 107 10.1016/S0140-6736(98)03495-3 10023895 (Pubitemid 29088079)
2. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. Harris PC, Bae KT, Rossetti S, J Am Soc Nephrol 2006 17 3013 3019 10.1681/ASN.2006080835 17035604 (Pubitemid 44707761)
3. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. Rossetti S, Burton S, Strmecki L, J Am Soc Nephrol 2002 13 1230 1237 10.1097/01.ASN.0000013300.11876.37 11961010 (Pubitemid 34441403)
4. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Rossetti S, Kubly VJ, Consugar MB, Kidney Int 2009 75 8 848 855 10.1038/ki.2008.686 19165178
5. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. Vujic M, Heyer CM, Ars A, J Am Soc Nephrol 2010 21 1097 1102 10.1681/ASN.2009101070 20558538
6. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Consugar MB, Wong WC, Lundquist PA, Kidney Int 2008 74 1468 1479 10.1038/ki.2008.485 18818683
7. Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Connor A, Lunt PW, Dolling C, Am J Transplant 2008 8 232 237 17973957
8. A simple salting out procedure for extracting DNA from human nucleated cells. Miler SA, Dykes DD, Polesky MF, Nucl AcidRes 1988 16 1215 10.1093/nar/16.3.1215
9. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HPH, Germino GG, Hum Mol Genet 1997 6 1473 1481 10.1093/hmg/6.9.1473 9285784 (Pubitemid 27397023)
10. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. Phakdeekitcharoen B, Watnick TJ, Germino GG, J Am Soc Nephrol 2001 12 5 955 963 11316854 (Pubitemid 32378336)
11. Rapid high-throughput method for the detection and quantification of RNA editing based on high-resolution melting of amplicons. Chaateigner-Boutin AL, Small I, Nucleic Acids Res 2007 35 114 10.1093/nar/gkm640 17726051 (Pubitemid 47506317)
12. Family history of renal disease severity predicts the mutated gene in ADPKD. Barua M, Cil O, Paterson AD, J Am Soc Nephrol 2009 20 8 1833 1838 10.1681/ASN.2009020162 19443633
13. Presence of de novo mutations in autosomal dominant polycystic kidney disease patiens without family history. Reed B, McFann K, Kimberling WJ, Am J Kidney Dis 2008 52 1042 1050 10.1053/j.ajkd.2008.05.015 18640754
14. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. Rossetti S, Consugar MB, Chapman AB, J Am Soc Nephrol 2007 18 2143 2160 10.1681/ASN.2006121387 17582161 (Pubitemid 47041080)
15. Novel mutations in the duplicated region of PKD1 gene. Perrichot R, Mercier B, Quere I, Eur J Hum Genet 2000 8 5 353 359 10.1038/sj.ejhg.5200459 10854095 (Pubitemid 30339339)
16. Dosage-sensitive network in polycystic kidney and liver disease: Multiple mutations cause severe hepatic and neurological complications. Kleffmann J, Frank V, Ferbert A, Bergmann C, J Hepatol 2012 57 467 468 10.1016/j.jhep.2012. 01.025 22387667