A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
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.
Li
Yang
Y
Beijing Institute of Ophthalmology, China.
Wang
Guanglu
G
Dong
Bing
B
Sun
Xiuying
X
Turner
Matthew J
MJ
Kamaya
Shin
S
Zhang
Kang
K
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
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins