Mutation in APC2 gene causes Sotos features

Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90 percent of Sotos syndrome patients have mutations in the NSD1 gene. This time, an international research group has revealed that mutation in the APC2 gene causes symptoms of Sotos syndrome related to the nervous system, from analyses of the Apc2-knockout mouse. ...read more