Genotype-phenotype correlations and functional characterization of novel <i>PAX2</i> variants in a 10-patient pediatric cohort.

ABSTRACT:

Background

PAX2 is a key developmental gene, and its mutations are primarily associated with kidney and ocular anomalies, predominantly affecting children. This study aims to analyze the clinical manifestations and genetic characteristics of children with PAX2 mutations and to assess the functional impact of novel variants.

Methods

Clinical data were retrospectively reviewed in 10 children diagnosed with PAX2 mutations through whole-exome sequencing from a pediatric hereditary disease cohort database. AlphaFold 3 (AF3) was used for protein structural modeling. Novel variants were functionally assessed via HK-2 cell proliferation assays.

Results

The median age at initial presentation was 4.2 years (IQR 0-6.5). All 10 patients presented with protein

SUBMITTER: Fu M 

PROVIDER: S-EPMC12439803 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature