Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation? In Reply

Mona Awadalla, Kathryn Burdon, Jamie Craig

    Research output: Contribution to journalLetter

    Abstract

    In Reply We agree with Sun and Zhang that the association of TMEM98 with nanophthalmos1 requires further confirmation, ideally by identifying additional pathogenic mutations in families who have nanophthalmos with a similar phenotype combined with molecular evidence of gene dysfunction. However, the identification of variants in individuals with different phenotypes as reported in the letter by Sun and Zhang in no way discounts TMEM98 as the likely cause of nanophthalmos in the reported family. Sequencing this gene in a large number of patients with phenotypes similar to the reported family would be a more useful strategy to determine its contribution to nanophthalmos and related phenotypes.
    Original languageEnglish
    Pages (from-to)359-360
    Number of pages2
    JournalJAMA Ophthalmology
    Volume133
    Issue number3
    DOIs
    Publication statusPublished - 1 Mar 2015

    Keywords

    • phenotype
    • mutations
    • variants

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