Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.

ABSTRACT:

Background

Renal coloboma syndrome (RCS) is a rare autosomal dominant genetic disorder associated with the paired box gene 2 (PAX2). Over the past three decades, PAX2 variants have manifested with vast phenotype and genotype heterogeneity, with limited experience gained regarding its clinical progression and management strategies.

Methods

We included nine Chinese children diagnosed with PAX2-related disorder at Beijing Children's Hospital. The medical records were retrospectively reviewed, and the demographic data, clinical manifestations, genetic testing results, imaging examination findings, laboratory tests, and renal biopsy results were recorded and analyzed.

Results

Eight distinct PAX2 pathogenic variants, including four novel variants, were identified in nine ch

SUBMITTER: Min J 

PROVIDER: S-EPMC11998127 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature