Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease.

ABSTRACT:

Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder. The PKD1 gene is responsible for the majority of ADPKD cases, and the mutations in this gene exhibit high genetic diversity. This study aimed to investigate the association between genotype and phenotype in ADPKD patients with PKD1 gene mutations through pedigree analysis.

Methods

Eight Chinese pedigrees affected by ADPKD were analyzed using whole-exome sequencing (WES) on peripheral blood DNA. The identified variants were validated using Sanger sequencing, and clinical data from the patients and their families were collected and analyzed.

Results

Nine novel mutation sites in PKD1 were discovered across the pedigrees, including c.4247T > G, c.3298_3301d

SUBMITTER: Zhuang J 

PROVIDER: S-EPMC10600478 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature