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-alleli
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
β Scribed by Karen White; Andreas Marquardt; Bernhard H.F. Weber
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 499 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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Mutations in the vitelliform macular dystrophy 2 (VMD2) gene encoding besrtophin are responsible for Best macular dystrophy (BMD), a juvenile-onset autosomal dominant disorder of the central retina. Here, we report ten novel VMD2 mutations identified in clinically diagnosed BMD patients. The heteroz
Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as re