The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.

ABSTRACT:

Introduction

Dent disease is an X-linked recessive disorder associated with low molecular weight proteinuria (LMWP), nephrocalcinosis, kidney stones, and kidney failure in the third to fifth decade of life. It consists of Dent disease 1 (DD1) (60% of patients) because of pathogenic variants in the CLCN5 gene and Dent disease 2 (DD2) with changes in OCRL.

Methods

Retrospective review of 162 patients from 121 different families with genetically confirmed DD1 (82 different pathogenic variants validated using American College of Medical Genetics [ACMG] guidelines). Clinical and genetic factors were compared using observational statistics.

Results

A total of 110 patients had 51 different truncating (nonsense, frameshifting, large deletions, and canonical spli

SUBMITTER: Arnous MG 

PROVIDER: S-EPMC10239918 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature