A potentially crucial role of the PKD1 C-terminal tail in renal prognosis.

ABSTRACT:

Background

Autosomal dominant polycystic disease (ADPKD) often results in renal failure. Recently, allelic influences of PKD1 mutation types on renal survival were extensively investigated. Here, we analyzed integrated influences of PKD1 mutation types and positions on renal survival.

Methods

We included 338 (82 pedigrees) and 72 (12 pedigrees) patients with PKD1 and PKD2 mutations, respectively, identified through comprehensive gene analysis of 101 probands with ADPKD. Genetic testing was performed using next-generation sequencing, long-range PCR, and multiplex ligation-dependent probe amplification. Pathogenic mutations were identified by a software package-integrated seven databases and provided access to five cloud-based computing systems.

Results

Mean renal survi

SUBMITTER: Higashihara E 

PROVIDER: S-EPMC5838153 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature