Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

Miguel Viribay, Tomohito Hayashi, Dolores Tellería, Toshio Mochizuki, David M. Reynolds, Rafael Alonso, Xose M. Lens, Felipe Moreno, Peter C. Harris, Stefan Somlo, José L. San Millán

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families, using heteroduplex and SSCP analyses. We have identified and characterized seven novel mutations, with a detection rate of approximately 90% in the population studied. All of the mutations result in the premature stop of translation: four nonsense changes and three deletions. The deletions are all frameshifting, of four T nucleotides in one case and one G nucleotide in the other two. All mutations are unique and are distributed throughout the gene without evidence of clustering. Comparison of specific mutations with the clinical profile in ADPKD2 families shows no clear correlation.

Original languageEnglish (US)
Pages (from-to)229-234
Number of pages6
JournalHuman Genetics
Issue number2
StatePublished - 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene'. Together they form a unique fingerprint.

Cite this