Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity

We identified two novel <i>LARS2</i> variants associated with PS in Chinese patients, thereby expanding the <i>LARS2</i> genetic spectrum and providing precise molecular evidence for clinical management and genetic counseling. This study enhances understanding of genotype-phenotype correlations in PS, thereby revealing the phenotypic heterogeneity of <i>LARS2</i> variants.