The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease.

ABSTRACT:

Background

Cystic kidney disease is common. Beyond autosomal dominant polycystic kidney disease (ADPKD), knowledge of other hereditary forms of cystic kidney disease remains limited. This study aimed to retrospectively analyse 702 patients with multiple renal cysts from the Chinese PLA General Hospital (September 2015-December 2023).

Methods

Patients suspected of having hereditary cystic kidney disease underwent next-generation sequencing (NGS) and subsequent bioinformatics analysis. Variations were assessed for pathogenicity in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Moreover, the ClinVar and Mastermind databases were used to identify novel mutation sites. Statistical analysis was performed using SPSS 25.0 software.

Result

SUBMITTER: Bi J 

PROVIDER: S-EPMC11997664 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature