What gene change causes Bardet-Biedl Syndrome?
Over 30 different mutations are known to cause Bardet-Biedl syndrome. About 25% of all cases of Bardet-Biedl syndrome are caused by genetic changes in the BBS1 gene, located on chromosome 11 at q13.
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What happens because of that gene change that causes Bardet-Biedl syndrome?
Mutations in the BBS1 gene produce shorter versions of a particular protein. This atypical protein affects the function of the cilia, hair-like tubules that extend outside cells in the body. Cilia help cells move and communicate between each other; when these cilia cannot function effectively, neither can the cells’ movement and communication. Researchers believe this dysfunction causes many symptoms of Bardet-Biedl syndrome including vision loss, kidney problems, lack of smell and hearing loss.
What are cilia and how are they involved in Bardet-Biedl Syndrome?
Cilia project from the cells of the body. Of the two types of cilia, motile cilia help cells move and primary cilia permit intercellular communication. Primary cilia inform other cells of their activity and advise how these others should function. With Bardet-Biedl syndrome, however, cilia often send faulty messages and often cannot sent the necessary messages at all.
Does anything make Bardet-Biedl Syndrome worse?
People with Bardet-Biedl syndrome should avoid substances contraindicated (not recommended) for those with kidney impairment.
Is Bardet-Biedl Syndrome a predisposition or a cause?
Bardet-Biedl syndrome causes vision loss, kidney problems, obesity, extra fingers and/or toes, and genital and/or urinary abnormalities. Individuals with Bardet-Biedl syndrome are also more likely to have intellectual disability. Learning difficulties caused by Bardet-Biedl syndrome are exacerbated by vision loss and intellectual disability.