In 2002, Japanese scientists discovered that a mutation in the NSD1 gene is responsible for Sotos syndrome. In about 95 percent of cases, the mutation is spontaneous and not inherited. Interestingly, the effects of the mutation differ between people with Sotos syndrome in the United States and Europe and those in Japan. In the former regions, the mutation is caused by small deletions while in Japan, the most common genetic change is a larger deletion of genetic material from a single region.
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