What Is Sotos Syndrome?
5. Genetics
Sotos syndrome is due to mutations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. The mutations in this gene have been identified in about 90% of patients with Sotos syndrome. This has been categorized as patients with Sotos syndrome 1.
The NSD1 gene is responsible in the production of a protein known as histone methyltransferase that helps normal growth and development. Several years ago, after mutations in the nuclear factor I, the X type (NFIX) gene was reported in 5 patients with Sotos syndrome; this has been classified as Sotos syndrome 2. Subsequently, Sotos syndrome 3 was reported in 2 siblings with neural features of Sotos syndrome and loss of function mutation in the adenomatous polyposis coli 2 (APC2) gene.
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