Furthermore, the phenotypes of the Cant1-knockout mouse were similar to those of a Cant1 knock-in mouse with an Arg302His substitution in the catalytic domain (Huber et al., 2009), which corresponds to the human mutation in patients with Desbuquois dysplasia characterized by a short stature, round face, progressive scoliosis, and joint laxity (Paganini et al., 2019). Here, CANT1 is linked to Desbuquois dysplasia.