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Bestrophinopathies are caused by mutations in the Bestrophin1 gene.
A gene is a region of DNA that contains all the instructions needed to make a听specific听protein.听If听a听spelling mistake (mutation)听occurs听in the gene听DNA听sequence,听a听faulty protein听can be produced, resulting in disease.听Scientists have discovered over 250听disease-causing听mutations in BEST1.听
罢丑别听BEST1听gene听is found on听the short听(q)听arm of听chromosome 11, within region听11q13 of the human genome.听The gene for BEST1 is only active in the RPE cells of the eye, therefore BEST1 protein is also only produced in RPE cells. 罢丑别听BEST1听gene is thought to be active in other tissues of the body, however, there has been no sign of disease in these tissues in patients.听BEST1 mutations can听be听inherited from parents, causing听dominant听or听recessive听disease, or the mutation can听appear for the first time in a family, a so-called,听de novo mutation.听
