Sotos syndrome is caused by mutations – or genetic changes – in the NSD1 gene. This gene encodes for the NSD1 protein, which is necessary for reading and amplifying DNA – the genetic material – in our body,
Now if the NSD1 gene is altered, the NSD1 protein will not be produced properly and will no longer be able to perform its normal function. This can result in the defective development of various structures in our body.
Sotos syndrome occurs in approximately one out of 14,000 live births and can be passed on by parents to their children. In these cases, it is inherited as an autosomal dominant disease. However, around 95% of cases involve a spontaneous or new mutation, called a de novo mutation.