Bestrophin gene mutations in patients with best vitelliform macular dystrophy

Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystroph y with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2. In a mutation study, we made three new and interesting observations. First, we identified possible mutation hotspots within the gene, suggesting that particular regions of the protein have gre ater functional significance than others. Second, we described a 2-bp delet ion in a part of the gene where mutations have not previously been reported ; this mutation causes a frameshift and subsequent premature termination of the protein. Finally, we have evidence that some mutations are associated with variable expression of the disease, suggesting the involvement of othe r factors or genes in the disease phenotype. (C) 1999 Academic Press.