SOX11

Coffin-Siris syndrome

At least 14 variants (also known as mutations) in the SOX11 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by intellectual disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. Most SOX11 gene variants involved in Coffin-Siris syndrome alter the SOX11 protein or prevent its production. These changes reduce the ability of the SOX11 protein to regulate the activity of genes, including those important for development of the brain and nerve cells. Altered gene activity can disrupt development of the brain and other tissues and organs, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.