Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

Martin C. Daoust, David M. Reynolds, Daniel G. Bichet, Stefan Somlo

Research output: Contribution to journalArticle

243 Scopus citations

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD.

Original languageEnglish (US)
Pages (from-to)733-736
Number of pages4
JournalGenomics
Volume25
Issue number3
DOIs
StatePublished - Feb 10 1995

ASJC Scopus subject areas

  • Genetics

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