These genes act like genetic “switches” that help cells decide what they will become and how different tissues and organs form —both during early development and later in life.
SOX6 gene
And SOX6 variants
The SOX6 gene is part of a larger family of about 20 SOX genes, all of which play key roles in how the body develops.
Specifically, SOX6 is involved in processes such as brain development (neurogenesis) and bone and skeletal formation (skeletogenesis).
SOXopathies
When one of the SOX genes is altered, it can lead to certain developmental conditions, collectively known as SOXopathies.
In 2020, researchers Tolchin and Le Caignec conducted the first scientific study focusing on SOX6 variants.
By analyzing clinical and genetic data, they identified 19 individuals from 17 unrelated families with different changes in the SOX6 gene. These individuals showed developmental delay and/or intellectual disability, along with other varying features such as ADHD, autism, mild facial differences, craniosynostosis (early fusion of skull bones), and multiple benign bone growths called osteochondromas.
This condition is now known as the Tolchin-Le Caignec Syndrome, or TOLCAS, named after the researchers who first described it.
