Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease

Kidney Int. 2020 Feb;97(2):261-263. doi: 10.1016/j.kint.2019.11.019.

Abstract

Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mosaicism
  • Mutation
  • Polycystic Kidney, Autosomal Dominant*
  • TRPP Cation Channels / genetics

Substances

  • TRPP Cation Channels

Grant support