Importantly, these variants, which have been studied in various types of cancer are associated with reduced TIMP3 plasma levels.[18–20] In combination the two variants disrupt two core ETS1 binding consensus sequences and prevent ETS1 binding, which is thought to be the basis of the reduction in expression.[20] Our discovery that known deleterious variants in TIMP3 are significantly associated with BAV and TAD of the aortic root in Turner syndrome fits well with the known role for TIMPs in protection against aortopathy. This evidence concerns the gene TIMP3 and Turner syndrome.