title: Novel PKD1 mutations - the effect on clinical phenotype of ADPKD patients in Lower Silesia.
abstract: BACKGROUND
  Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development and progressive enlargement of cysts in the kidneys. The diagnosis of ADPKD is usually determined by criteria of renal ultrasound imaging of the development and number of cysts. However, in atypical cystic disease, for the recognition of ADPKD, DNA-based assays may be required.
  
  
  METHODS
  In the present study PCR amplified fragments of the PKD1 gene (covering exons 15 and 43- 44) from genomic DNA of 134 Lower Silesia patients were analyzed for mutations and polymorphisms. Among them, the clinical significance of different PKD1 mutations was investigated in 81 persons.
  
  
  RESULTS
  Eight new, previously undescribed, and 2 recurrent mutations were discovered. The presence of 3 known polymorphisms was confirmed. Seven of the 8 new discovered mutations were heterozygous.
  
  
  CONCLUSIONS
  The results of the present study demonstrated that the frequency of genetic abnormalities in the analyzed fragments of the PKD1 gene in the Lower Silesian population is smaller than previously reported. Moreover, we could not detect deletions and insertions, which are often present is these regions of the PKD1 gene, which may be due to the limited number of screened patients. We conclude that none of the discovered changes in the PKD1 gene had any effect on clinical phenotype of the disease.
authors.affiliation: Department of Nephrology and Transplantation Medicine, Wroclaw Medical University, Wrocław, Poland. haugust@poczta.onet.pl
authors.forename: Hanna
authors.initials: H
authors.lastname: Augustyniak-Bartosik
authors.forename: Magdalena
authors.initials: M
authors.lastname: Krajewska
authors.forename: Wacław
authors.initials: W
authors.lastname: Weyde
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Madziarska
authors.forename: Michał
authors.initials: M
authors.lastname: Rurek
authors.forename: Marian
authors.initials: M
authors.lastname: Klinger
mesh_terms: D000328:Adult; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011044:Poland; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D050396:TRPP Cation Channels
chemical_list: D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D050396:TRPP Cation Channels; D017346:Protein Serine-Threonine Kinases