Up till now, CANT1 (calcium activated nucleotidase 1) mutations have been reported in Desbuquois dysplasia type 1 and Kim variants [Faden et al., 2010; Furuichi et al., 2011; Huber et al., 2009; Laccone et al., 2011]. This evidence concerns the gene CANT1 and Desbuquois dysplasia 1.