Identification of Key Genes and Signaling Pathways in Microtia by the Analysis of Transcriptomics

Microtia is a common, complex congenital birth defect in the world. According to the degree of deformity, microtia can be divided into several types. However, it is unclear whether the different degrees of microtia share a common underlying mechanism. In this study, the transcriptomic profiles of auricular cartilage tissues from mild and severe deformities and controls were detected by RNA-seq technology. Relative mRNA abundances were compared and assessed for their function and putative involvement in microtia. A total of 1058, 1648, and 1150 differentially expressed genes (DEGs) were identified in MIC-Ⅱ-vs-NOR, MIC-Ⅲ-vs-NOR, and MIC-Ⅲ-vs-MIC-Ⅱ groups, respectively. Further bioinformatics analysis revealed that some DEGs displayed potential associations with microtia. In the lobular type microtia (MIC-Ⅱ), the changed biological processes mainly enriched in mitosis. And in the conchal type microtia (MIC-Ⅲ), the changed biological processes were not only enriched in mitosis but also in migration. In addition, we also found that the dysregulation of the key genes IL-6 and COMP and key signaling pathway PI3K-AKT signaling pathway were associated with the development of microtia. This study was a report on the transcriptomic detection and bioinformatics analysis of auricular samples of different degrees of microtia. Through this study, we initially explored the correlation of different degrees of microtia pathogenesis, but further research is still needed to confirm these mechanisms.