A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy
Ann. Acad. Med. Singap. (Online)
; : 408-410, 2006.
Article
in En
| WPRIM
| ID: wpr-300093
Responsible library:
WPRO
ABSTRACT
<p><b>INTRODUCTION</b>In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.</p><p><b>MATERIALS AND METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
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China
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Chloride Channels
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Eye Proteins
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Bestrophins
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Genetics
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Macular Degeneration
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Mutation
Limits:
Adult
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Female
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Humans
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Male
Country/Region as subject:
Asia
Language:
En
Journal:
Ann. Acad. Med. Singap. (Online)
Year:
2006
Type:
Article