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 are published in the journal Cell Reports.
This image shows the effects of NSD1 knockdown on migration of cortical neurons.
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