Sotos Syndrome is primarily caused by a mutation in which gene?

Sotos Syndrome is primarily associated with mutations in the NSD1 gene, which is located on chromosome 5. This gene encodes a protein that is involved in histone methylation, a critical process for regulating gene expression during development. Mutations in NSD1 can lead to the various clinical features characteristic of Sotos Syndrome, including a distinctive pattern of growth, developmental delays, and other phenotypic features.

Understanding the role of the NSD1 gene highlights its importance in the etiology of Sotos Syndrome and underscores the impact of genetic mutations on growth and development in affected individuals. Other genes listed, such as NSD2, F8, and F9, are associated with different conditions or functions and do not play a role in the development of Sotos Syndrome. F8 and F9, for instance, are linked to hemophilia, illustrating the specificity of genetic conditions to particular genes and their respective functions.