Abstract
Aim: To investigate the possible epigenetic pathogenesis of sporadic congenital cataract. Materials & methods: We conducted whole genome bisulfite sequencing on peripheral blood from sporadic binocular or monocular congenital cataract patients and cataract-free participants. Results: We found massive differentially methylated regions within the whole genomes between any two groups. Meanwhile, we identified five genes (ACTN4, ACTG1, TUBA1A, TUBA1C, TUBB4B) for the binocular and control groups and TUBA1A for the monocular and control groups as the core differentially methylated region-related genes. The proteins encoded by these core genes are involved in building cytoskeleton and intercellular junctions. Conclusion: Changes in the methylation levels of core genes may disturb the function of cytoskeleton and intercellular junctions, eventually leading to sporadic congenital cataract.
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