What is a THOC2-related disorder?

The THOC2 gene is an important gene contributing to the development and function of neurones (brain cells) in the brain. THOC2-related disorders are a range of neurocognitive disorders that develop when the THOC2 gene is unable to function properly.

THOC2-related disorder is characterised by developmental delay/intellectual disability and additional features can be present for example neurological conditions and growth disorders. Not all people with a change in the THOC2 gene have all these features. THOC2 -related disorders can affect both males and females; however, most females that inherit the gene change have no symptoms.

How many people are affected by a THOC2-related disorder?

Since the condition was first described in 2016, thirty seven individuals have been reported in the medical literature with THOC2-related disorder. As more individuals are diagnosed with THOC2-related disorder around the world, we will learn more about the condition.