CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.

ABSTRACT:

Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which approximately 80% of all cases have a genetic explanation; and among sporadic cases without a family history, the genetic bases remain unclear in approximately 30% of cases. This study aimed to identify genes associated with polycystic kidney disease (PKD) in patients with sporadic cystic kidney disease in which a clear genetic change was not identified in established genes.

Methods

A next-generation sequencing panel analyzed known genes related to kidney cysts in 118 sporadic cases, followed by whole-genome sequencing (WGS) on 47 unrelated individuals without identified candidate variants. Immunohistology examination was then conducted on both human kidney tissue and kid

SUBMITTER: Mori T 

PROVIDER: S-EPMC11652189 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature