Corroborating the importance of CXXC5 in cellular events, de-regulation of CXXC5 expression appears to correlate with a number of pathologies including diminished ovarian reserve (DOR), Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES), cardiovascular disease, myelodysplastic syndrome19, 20, 21, 22. The gene discussed is CXXC5; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.