A Novel Mutation of the VMD2 Gene in a Chinese Family with Best Vitelliform Macular Dystrophy-Reference-Cited by-同舟云学术

A Novel Mutation of the VMD2 Gene in a Chinese Family with Best Vitelliform Macular Dystrophy

Published:2006-06-15 Issue:6 Volume:35 Page:408-410
ISSN:0304-4602
Container-title:Annals of the Academy of Medicine, Singapore
language:en
Short-container-title:Ann Acad Med Singap

Author:

Li Yang¹,Wang Guanglu²,Dong Bing¹,Sun Xiuying¹,Turner Matthew J³,Kamaya Shin³,Zhang Kang³

Affiliation:

1. Beijing Institute of Ophthalmology, China

2. Capital University of Medical Science, China

3. University of Utah Health Sciences Center, Utah, USA

Abstract

Introduction: In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy. Materials and 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. Key words: Best macular dystrophy, Bestrophin, Retinal pigment epithelium

Publisher

Academy of Medicine, Singapore

Subject

General Medicine

Reference12 articles.

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