A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)

Human Molecular Genetics
S L XenophontosC C Deltas

Abstract

Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for approximately 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic changes, and the age of onset, which is 10-15 years later for the ADPKD2 form. In Cyprus there are at least three large families, documented by molecular linkage analysis, that map to the PKD2 locus. For two of them the defects were recently shown to be nonsense mutations at positions arginine 742 and glutamine 405. In this report, we describe the mutation in the third family, CY1602. For this, the entire coding sequence was systematically screened by single strand conformation analysis and heteroduplex formation. A novel mutation was identified in exon 2 where a new cytosine residue was inserted immediately after codon 231 (231insC). It causes a translation frameshift and is expected to lead to the introduction of 37 novel amino acids before the translation reaches a new STOP codon. It is the most amino terminal mutation reported to date, and based on the protein's modeled structure, is predicted to be within the first transmembrane domain. It is the fourth PKD2 mutation reported thus far, and th...Continue Reading

References

Nov 1, 1990·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·P A Gabow
Apr 1, 1995·Human Genetics·C D Constantinou-DeltasA Pierides
Jun 1, 1995·Human Genetics·N BogdanovaL Kalaydjieva
Jul 29, 1993·The New England Journal of Medicine·P A Gabow
Nov 1, 1996·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·A E TurcoP F Pignatti

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Citations

Jul 20, 2012·Chemical Reviews·Ivana Y Kuo, Barbara E Ehrlich
Apr 12, 2000·Kidney International·N HateboerD Ravine
Dec 23, 2008·The Journal of Biological Chemistry·Eun Young ParkJong Hoon Park
Mar 23, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·D M IglesiasJ L Millán
Apr 8, 1998·Current Opinion in Nephrology and Hypertension·V E Torres
Jan 29, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·K DemetriouA Pierides
Jan 16, 2019·Advanced Science·Yuhei NishimuraMasaki Inagaki
Feb 3, 2000·Molecular Genetics and Metabolism·G Wu, S Somlo
Nov 30, 1999·Journal of the American Society of Nephrology : JASN·D M ReynoldsS Somlo
Sep 29, 2000·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·R TorraA Darnell

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