FLCN gene

Birt-Hogg-Dubé syndrome

Mutations in the FLCN gene can lead to Birt-Hogg-Dubé syndrome (BHDS).  This condition causes many benign skin tumors as well as an increased risk for cancerous tumors, specifically in the kidney. Individuals with BHDS  Symptoms of the syndrome often arise in a person’s twenties or thirties.

The FLCN gene is responsible for making the folliculin protein.  The exact function of this protein has not been determined however it is suspected that it acts as a tumor suppressor. When functioning normally, the folliculin protein helps the cell with multiple necessary processes such as interactions with other cells and providing structural support for the cell. FLCN is inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.