Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.

ABSTRACT:

Introduction

Nephronophthisis (NPHP) is an autosomal recessive kidney disease resulting mainly from primary cilium defects, with unspecific and variable symptoms that can progress to kidney failure needing replacement therapy at a young age. Currently, up to 64% of likely NPHP cases can be diagnosed by assessing known genes. Therefore, there is a need to gain more insight in what genes can cause this disease.

Methods

In a diagnostic setting, we performed broad genetic testing in patients with advanced kidney disease. We carried out in silico and in vitro analyses for TMEM72, including immunohistochemistry and affinity proteomics, and in vivo experiments to further interpret our findings.

Results

We identified biallelic TMEM72 variants in 9 patients from six families w

SUBMITTER: Claus LR 

PROVIDER: S-EPMC12782617 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature