title: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
abstract: 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.
authors.affiliation: Department of Cancer Genetics, Roswell Park Cancer Institute, 666 Elm Street, Buffalo, New York 14263, USA.
authors.forename: G M
authors.initials: GM
authors.lastname: Caldwell
authors.forename: L E
authors.initials: LE
authors.lastname: Kakuk
authors.forename: I B
authors.initials: IB
authors.lastname: Griesinger
authors.forename: S A
authors.initials: SA
authors.lastname: Simpson
authors.forename: N J
authors.initials: NJ
authors.lastname: Nowak
authors.forename: K W
authors.initials: KW
authors.lastname: Small
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
authors.forename: P J
authors.initials: PJ
authors.lastname: Rosenfeld
authors.forename: P A
authors.initials: PA
authors.lastname: Sieving
authors.forename: T B
authors.initials: TB
authors.lastname: Shows
authors.forename: R
authors.initials: R
authors.lastname: Ayyagari
mesh_terms: D019943:Amino Acid Substitution; D000075002:Bestrophins; D018118:Chloride Channels; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D004247:DNA