A Founder Mutation in <i>EHD1</i> Presents with Tubular Proteinuria and Deafness.

ABSTRACT:

Background

The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understood. EHD1 belongs to a family of proteins presumably involved in the scission of intracellular vesicles and in ciliogenesis. However, the relevance of EHD1 in human tissues, in particular in the kidney, was unknown.

Methods

Genetic techniques were used in patients with tubular proteinuria and deafness to identify the disease-causing gene. Diagnostic and functional studies were performed in patients and disease models to investigate the pathophysiology.

Results

We identified six individuals (5-33 years) with proteinuria and a

SUBMITTER: Issler N 

PROVIDER: S-EPMC8970462 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature