# Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom

## TL;DR

A 58-year-old woman with kidney disease was found to have a new genetic mutation linked to a hereditary kidney condition.

## Contribution

This is the first report linking the PKD2 variant c.1262C>A to autosomal dominant polycystic kidney disease.

## Key findings

- A novel pathogenic variant in the PKD2 gene was identified in a patient with ADPKD.
- The variant c.1262C>A (p. Ala421Glu) was confirmed to cause the ADPKD phenotype.
- The case was diagnosed through family analysis, imaging, and genomic sequencing.

## Abstract

We report a case of a 58-year-old woman presenting with worsening arterial hypertension and a history of symptomatic stone disease. Detailed family pedigree analysis, appropriate imaging studies, and genomic sequencing identified a novel pathogenic variant in the PKD2 gene, c.1262C>A (p. Ala421Glu), confirming the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). To the best of our knowledge, this case study represents the first documented report of the causative role of c.1262C>A (p. Ala421Glu) variant in the ADPKD phenotype.