Rare mutations in PRDM5 have been identified in Brittle cornea syndrome (BCS), a connective tissue disease characterized by thinning of the cornea, whereas it has also been reported that PRDM5 is silenced due to the promoter hypermethylation in breast cancer, liver cancer, lung cancer, ovarian cancer, cervical cancer, and gastrointestinal cancer 17, 18, 19, 20, 21. Here, PRDM5 is linked to connective tissue disorder.