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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 specific protein. If a spelling mistake (mutation) occurs in the gene DNA sequence, a faulty protein can be produced, resulting in disease. Scientists have discovered over 250 disease-causing mutations in BEST1.
The BEST1 gene is found on the short (q) arm of chromosome 11, within region 11q13 of the human genome. The gene for BEST1 is only active in the RPE cells of the eye, therefore BEST1 protein is also only produced in RPE cells. The BEST1 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. BEST1 mutations can be inherited from parents, causing dominant or recessive disease, or the mutation can appear for the first time in a family, a so-called, de novo mutation.
