A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy
Annals of the Academy of Medicine, Singapore
;
: 408-410, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-300093
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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
China
/
Canais de Cloreto
/
Proteínas do Olho
/
Bestrofinas
/
Genética
/
Degeneração Macular
/
Mutação
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of the Academy of Medicine, Singapore
Ano de publicação:
2006
Tipo de documento:
Artigo
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