Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Hum Mutat. 2001 Mar;17(3):235. doi: 10.1002/humu.9.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bestrophins
  • Chloride Channels
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Family Health
  • Female
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Mutation
  • Mutation, Missense
  • Pedigree

Substances

  • BEST1 protein, human
  • Bestrophins
  • Chloride Channels
  • Eye Proteins
  • DNA