Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.

ABSTRACT:

Introduction

Disease-causing mutations in the protocadherin FAT1 have been recently described both in patients with a glomerulotubular nephropathy and in patients with a syndromic nephropathy.

Methods

We identified 4 patients with FAT1-associated disease, performed clinical and genetic characterization, and compared our findings to the previously published patients. Patient-derived primary urinary epithelial cells were analyzed by quantitative polymerase chain reaction (qPCR) and immunoblotting to identify possible alterations in Hippo signaling.

Results

Here we expand the spectrum of FAT1-associated disease with the identification of novel FAT1 mutations in 4 patients from 3 families (homozygous truncating variants in 3, compound heterozyg

SUBMITTER: Fabretti F 

PROVIDER: S-EPMC8116753 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature