By combining genetic linkage analysis and whole exome sequencing in two independent families in which multiple members are affected by EDs, we have previously identified two missense mutations in the estrogen-related receptor alpha (ESRRAR188Q) and histone deacetylase 4 (HDAC4A786T) genes, respectively (Cui et al., 2013), that increase the risk of developing an ED. The gene discussed is ESRRA; the disease is Ehlers-Danlos syndrome.