Bestrophin gene mutations in patients with best vitelliform macular dystrophy

Germaine M. Caldwell, Laura E. Kakuk, Irina B. Griesinger, Stacey A. Simpson, Norma J. Nowak, Kent W. Small, Irene H. Maumenee, Philip J. Rosenfeld, Paul A. Sieving, Thomas B. Shows, Radha Ayyagari

Research output: Contribution to journalArticlepeer-review

80 Scopus citations


Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy 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 greater functional significance than others. Second, we described a 2-bp deletion 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 other factors or genes in the disease phenotype.

Original languageEnglish (US)
Pages (from-to)98-101
Number of pages4
Issue number1
StatePublished - May 15 1999

ASJC Scopus subject areas

  • Genetics


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