Novel de novo mutation in a patient with Best macular dystrophy.
Arch Ophthalmol
; 124(6): 887-9, 2006 Jun.
Article
em En
| MEDLINE
| ID: mdl-16769844
ABSTRACT
OBJECTIVE:
To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy.METHODS:
Best-corrected visual acuity, dilated fundus examination, and electro-oculography were performed in a patient with Best macular dystrophy and his parents. Both the patient and his parents also had blood samples drawn, and their DNA was analyzed by direct genomic sequencing.RESULTS:
A heterozygous VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA]) was identified in the proband. This mutation was not present in his clinically unaffected parents.CONCLUSIONS:
A novel de novo mutation in the VMD2 gene was found in a patient whose phenotype and electro-oculographic findings were characteristic of Best macular dystrophy, whereas both parents were phenotypically and genetically unaffected. The findings in this family document that a de novo mutation needs to be considered when an isolated family member is found to have a Best disease phenotype.
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Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
/
Proteínas do Olho
/
Degeneração Macular
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article