Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease

Gene. 2017 Nov 15:634:1-4. doi: 10.1016/j.gene.2017.08.040. Epub 2017 Sep 1.

Abstract

Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene that segregated between affected and unaffected family members. This mutation is currently not present in the 1000 Genomes Project nor ExAC databases and is therefore a novel PKD1 mutation involved in ADPKD. These results provide a novel sequence variant for the genetic analysis of this disease.

Keywords: Autosomal dominant PKD; High-throughput sequencing; PKD1; Polycystic kidney disease.

MeSH terms

  • Adult
  • Exome
  • Female
  • Frameshift Mutation*
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Sequence Analysis, DNA / methods*
  • TRPP Cation Channels / genetics*

Substances

  • TRPP Cation Channels
  • polycystic kidney disease 1 protein