Identification of the Most Common Gene for Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is characterized by multiple clinical phenotypes including retinal dystrophy, polydactyly, cognitive defects and retinal dysplasia. To date, nine BBS genes have been cloned and determined to contain 40-50% of the total mutational load of the disease. Scientists at Johns Hopkins University have discovered yet another BBS gene, BBS10, which explains greater than 20% of all mutations resulting in Bardet-Biedl syndrome. The novel discovery of BBS10 and the extent of its contribution to the disease make this gene an important diagnostic tool and therapeutic target. Description (Set) Proposed Use (Set) A diagnostic test for the presence of the BBS10 mutation would likely be directed for use in prenatal and antenatal screening. Further analysis of this gene and its protein product may offer new understanding and new therapeutic approaches to familial obesity, retinal degeneration and kidney failure syndromes.
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