Parents

What is the SARS1 gene?
Think of our bodies as being built from a huge library of instruction books called genes. The SARS1 gene is one of these books. Its main job is to provide the instructions for making an important tool, called an enzyme. This specific enzyme, seryl-tRNA synthetase, is essential for building proteins. Proteins are the fundamental building blocks for almost everything in our body, from our muscles to our organs, and they are especially critical for the healthy development and function of the brain.

What happens when there is a change in the SARS1 gene?
A change, or "mutation," in the SARS1 gene is like a typo or a missing page in the instruction book. Because of this error, the enzyme tool it is supposed to make doesn't work correctly. When this tool is faulty, the body can't build proteins properly. This disruption can lead to a range of health challenges, particularly affecting the brain. The condition caused by these changes is very rare.

What are the main features of SARS1-related disorders?
Because the brain is so active and constantly building new things, it is the organ most affected. The main challenges are related to brain development and function. Children with a SARS1-related disorder may experience developmental delays, have difficulty with learning (intellectual disability), and have seizures. They might also have problems with balance and coordination (ataxia) and often have a smaller head than other children their age (microcephaly). In some children, the condition can also affect other parts of the body, leading to hearing loss or issues with the heart.

How is it passed down in families?
Most often, this condition is "autosomal recessive." This means that for a child to have the condition, they must inherit a changed copy of the SARS1 gene from both their mother and their father. The parents, who each have one changed copy and one working copy, are called "carriers." Carriers typically do not have any symptoms of the condition themselves. In very rare instances, a new change in the gene that was not inherited from either parent can cause a different set of symptoms. A genetic counsellor can help explain what this means for your family.