Clouston syndrome

Causes

What gene change causes Clouston Syndrome?

Everyone has two copies of the GJB6 gene located on chromosome 13. The official name of this gene is “gap junction protein beta 6.” We get one copy of the GJB6 gene from our mother and one copy from our father. Having a specific harmful change (mutation) in one copy of the GJB6 gene causes Clouston syndrome.

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How does having a specific mutation in a copy of the GJB6 gene cause Clouston Syndrome?

Does everyone with Clouston syndrome have a GJB6 gene mutation?

How many GJB6 gene mutations are known to be associated with Clouston Syndrome?

What does it mean to have inherited a “variant” in the gene for Clouston syndrome?

How does having a specific mutation in a copy of the GJB6 gene cause Clouston Syndrome?

The GJB6 gene provides instructions for making the protein connexin 30. Connexin 30 proteins form channels that transport small molecules. This protein is found in many different tissues in the body such as the skin, hair follicles, and nail beds. When this protein does not work, you see the skin, hair, and nail abnormalities common in Clouston syndrome.

Does everyone with Clouston syndrome have a GJB6 gene mutation?

Approximately 100% of people with Clouston syndrome have a gene change (mutation) in the GJB6 gene. As of 2019, there is no other gene associated with Clouston syndrome.

What does it mean to have inherited a “variant” in the gene for Clouston syndrome?

When a person inherits a “variant” or "variant of unknown significance" in the gene that causes Clouston syndrome, it means they have a change in the GJB6 gene. However, at the current time, there is not enough research or evidence to show whether that specific change actually causes the symptoms of Clouston syndrome. As more individuals are tested and found to have that specific change and more research is performed, sometimes the interpretation of a variant will change.

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