Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

ABSTRACT:

Introduction

Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD). In patients with polycystic kidneys who have a positive family history, >90% have pathogenic variants in PKD1 or PKD2, whereas only 1% have IFT140. However, approximately 40% of patients with polycystic kidneys without a family history do not have any pathogenic variants in PKD1 and PKD2.

Methods

We conducted a comprehensive genetic analysis of 157 adult patients with polycystic kidneys whose parents did not have evident polycystic kidneys. We sequenced up to 92 genes associated with inherited cystic kidney disease, including IFT140.

Results

Of the 157 patients, 7 (

SUBMITTER: Fujimaru T 

PROVIDER: S-EPMC11403091 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature