title: A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
abstract: BACKGROUND
  In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.
  
  
  METHODS
  Ophthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.
  
  
  RESULTS
  Sequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.
  
  
  CONCLUSIONS
  A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.
authors.affiliation: Beijing Institute of Ophthalmology, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.forename: Guanglu
authors.initials: G
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Dong
authors.forename: Xiuying
authors.initials: X
authors.lastname: Sun
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Turner
authors.forename: Shin
authors.initials: S
authors.lastname: Kamaya
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002681:China; D018118:Chloride Channels; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins