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% 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. They also showed that the APC2 gene is a crucial downstream gene of the NSD1 gene. The results of this work will be published in the journal ‘Cell Reports’ on the 5th of March 2015.
Prof. Masaharu Noda and Assoc. Prof. Takafumi Shintani