Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001.
Centre de recherche thérapeutique en ophtalmologie, Equipe d'accueil 2502 MENRT, Université René Descartes Paris V, Faculté de Médecine Necker-Enfants Malades, 156 rue de Vaugirard, 75015 Paris, France.
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Uteza
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D001483:Base Sequence; 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; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D004247:DNA