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  • Title: A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
    Author: Li Y, Wang G, Dong B, Sun X, Turner MJ, Kamaya S, Zhang K.
    Journal: Ann Acad Med Singap; 2006 Jun; 35(6):408-10. PubMed ID: 16865191.
    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.
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