Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

April Crawford, Emmanuelle Souzeau, Ashish Agar, Bronwyn Ridge, Andrew Dubowsky, Kathryn Burdon, Jamie Craig

    Research output: Contribution to journalArticle

    3 Citations (Scopus)

    Abstract

    MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373*), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant.

    Original languageEnglish
    Pages (from-to)271-275
    Number of pages5
    JournalGene
    Volume545
    Issue number2
    DOIs
    Publication statusPublished - 2014

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