A rare disease that causes extra toes has been identified

Disruption of a process called cyclin D2 stabilisation (CCND2) is known to underlie a number of disorders associated with macrocephaly. These disorders can occur due to mutations in both the CCND2 gene itself and upstream genes. A mutation in MAX causes an increase in intracellular CCND2 by increasing transcription, but does not cause CCND2 to stabilise.

The scientists also showed that the recently developed drug Omomyc-CPP, which is an inhibitor of the mutation-containing domain of the MAX protein, represents a potential therapy for people with transcription factor dysfunction.