9.B.456. The ELMOD3 (ELMOD3) Family
The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. Liu et al. 2023 generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mutation, and the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing. Then the applied RNA sequencing profiling of the patient-derived iPSC line was compared with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport (Liu et al. 2023). The mechanism of action of ELMOD2 was not determined.