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Novel de novo mutation in a patient with Best macular dystrophy
Journal article   Open access   Peer reviewed

Novel de novo mutation in a patient with Best macular dystrophy

Marsha A Apushkin, Gerald A Fishman, Christine M Taylor and Edwin M Stone
Archives of ophthalmology (1960), Vol.124(6), pp.887-889
06/2006
DOI: 10.1001/archopht.124.6.887
PMID: 16769844
url
https://doi.org/10.1001/archopht.124.6.887View
Published (Version of record) Open Access

Abstract

To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy. 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. 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. 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.
 Electrooculography Macular Degeneration - physiopathology Humans Retina - physiopathology Exons - genetics Male Mutation, Missense Visual Acuity Bestrophins Chloride Channels Macular Degeneration - genetics DNA Mutational Analysis Polymerase Chain Reaction Eye Proteins - genetics Child

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