Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

Toshio Mochizuki, Atsuko Teraoka, Hiroyuki Akagawa, Shiho Makabe, Taro Akihisa, Masayo Sato, Hiroshi Kataoka, Michihiro Mitobe, Toru Furukawa, Ken Tsuchiya, Kosaku Nitta

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved. Methods: We performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS. Additionally, genetic analyses in exon 1 of PKD1 using Sanger sequencing because of an extremely low coverage of NGS and those using multiplex ligation-dependent probe amplification (MLPA) were performed. Results: The detection rate using NGS for 111 patients was 86.5%. One mutation in exon 1 of PKD1 and five deletions detected by MLPA were identified. When combined, the total detection rate was 91.9%. Conclusion: Although NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS.

Original languageEnglish
Pages (from-to)1022-1030
Number of pages9
JournalClinical and experimental nephrology
Volume23
Issue number8
DOIs
Publication statusPublished - 2019 Aug 1

Keywords

  • ADPKD
  • MLPA
  • Next-generation sequencing
  • PKD1
  • PKD2
  • Polycystic kidney disease

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)

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