Novel PKD1 Mutation (c.G10086T) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by intracranial aneurysms (IAs). However, the genetic factors driving the elevated IA risk in ADPKD remain poorly understood. In this study, we identified a novel PKD1 mutation associated with a remarkably high IA incidence in a large Chinese ADPKD family.

Methods

We conducted whole-exome sequencing in a three-generation Chinese ADPKD family (n = 24) characterized by an unusually high IA prevalence. The pathogenicity of the identified PKD1 variant was validated through comprehensive functional studies, including protein localization, calcium signaling, and endothelial cell behavior analyses.

Results

We discovered a novel PKD1 mutation (c.G10086T) that co-segregated with disease i

SUBMITTER: Gao L 

PROVIDER: S-EPMC11840425 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature