Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease

Alberto E. Turco, Sandro Rossetti, Elena Bresin, Stefano Corrà, Gabriella Restagno, Angelo Carbonara, Ornella De Frisco, Linda Gammaro, Giuseppe Maschio, Pier Franco Pignatti

Research output: Contribution to journalArticlepeer-review

Abstract

Sixty-seven Italian patients with autosomal dominant polycystic kidney disease (ADPKD) were screened for mutations in the PKD1 gene. We used PCR, heteroduplex and single-strand conformation polymorphism DNA analysis, and automated DNA sequencing for exons 35, 36, 38, 44 and 45. We detected abnormal heteroduplexes in affected individuals from two unrelated families with clinically severe ADPKD phenotype. These changes were absent in other, unaffected members, as well as in the probands of the other families studied. DNA sequencing revealed in both cases different C to T transitions in exon 44, which created premature stop codons. Both mutations altered restriction sites, and the abnormal patterns were observed in all the affected family members. RT-PCR performed on lymphocyte mRNA showed that both the mutant and the normal transcript are represented. To our knowledge these are the first nonsense mutations described in the PKD1 gene.

Original languageEnglish
Pages (from-to)10-12
Number of pages3
JournalNephrology Dialysis Transplantation
Volume11
Issue numberSUPPL. 6
Publication statusPublished - 1996

Keywords

  • ADPKD
  • Mutation detection
  • Nonsense mutations
  • PCR
  • PKD1 gene

ASJC Scopus subject areas

  • Nephrology
  • Transplantation

Fingerprint Dive into the research topics of 'Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease'. Together they form a unique fingerprint.

Cite this