The only work that has suggested that acrodysostosis causing mutations lead to an increase rather than a decrease in PKA signalling was recently published by Venkatakrishnan et al. 51 This article looked at the effect that mutations associated with acrodysostosis in PRKAR1A and PDE8 have on the termination of cAMP induced PKA signalling. This evidence concerns the gene PRKAR1A and acrodysostosis.