A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by pathogenic variants of PKD1 and PKD2. Compared to PKD2-related patients, patients with PKD1 pathogenic variants have more severe symptoms, present a gradual decline in renal function, and finally progress to end-stage kidney disease with an earlier mean onset age.

Methods

In this study, trio exome sequencing (ES) was performed to reveal the genetic etiology in a Chinese family clinically diagnosed with polycystic kidney, followed by validation through Sanger sequencing on both genomic DNA and cDNA levels. Subsequently, targeted preimplantation genetic testing was provided for the family.

Results

A novel heterozygous PKD1 variant (c.1717_1722+11del) was detected in the proband and other

SUBMITTER: Zhao Q 

PROVIDER: S-EPMC10422069 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature