Joubert syndrome

What is Joubert syndrome?

Joubert syndrome is a rare disease that affects multiple parts of the body. The symptoms and features of the syndrome vary widely between individuals, and may even differ between affected individuals in the same family.

It is a genetic syndrome that affects brain development primarily. But it also affects multiple parts of the brain. The two main brain abnormalities associated with the syndrome are, an absent or underdeveloped cerebellar vermis (the part of the brain that controls balance and coordination), and a malformed brain stem (this is what connects the brain and the spinal cord).

What gene changes cause Joubert syndrome?

There are many genes associated with causing the syndrome. And more that are not yet identified. It is inherited in an autosomal recessive pattern.

In rare cases the syndrome may be inherited in an X-linked manner. Mutations in the OFD1 gene are responsible for this inherited form of the syndrome.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Joubert syndrome?

Hypotonia, or low muscle tone, is a main symptom which presents in infancy. Ataxia, an issue with the coordination of movements is also present. In very early infancy, before six months, issues with breathing are common with the syndrome.

Ocular Motor apraxia, the inability to move the eyes from side to side, has been reported as occurring with the syndrome.

Mild to severe intellectual disability is another symptom and usually affects the language and motor skills of an affected individual.

Unique facial features of the syndrome include widely spaced eyes and droopy eyelids, arched eyebrows, a broad forehead, low set ears and a triangular shaped mouth.

How does someone get tested for Joubert syndrome?

The initial testing for Joubert syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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