ACAN and osteoarthritis: Interestingly, among these, the ACAN missense variant p.L2393P (originally referred to as p.L2355P, see Table 1) is located in the G3 domain of aggrecan, like the p.V2455M fOCD variant, and result in short stature with early onset osteoarthritis and with OCD observed in the proband, although heredity for the latter remains unclear8,17.