Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology.

ABSTRACT:

Background

Microtia is reported to be one of the most common congenital craniofacial malformations. Due to the complex etiology and the ethical barrier of embryonic study, the precise mechanisms of microtia remain unclear. Here we report a rare case of microtia with costal chondrodysplasia based on bioinformatics analysis and further verifications on other sporadic microtia patients.

Results

One hundred fourteen deleterious insert and deletion (InDel) and 646 deleterious SNPs were screened out by WES, candidate genes were ranked in descending order according to their relative impact with microtia. Label-free proteomic analysis showed that proteins significantly different between the groups were related with oxidative stress and energy metabolism. By real-time PCR and immunoh

SUBMITTER: Liu W 

PROVIDER: S-EPMC11129396 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature