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The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma
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  • Published on: 19 September 2019
    reply to Previous Reports of Tyr437His mutation
    • Lei Lei, doctor PK University Third Hispital
    • Other Contributors:
      • Zhang Chun, professor

    Dear Editors,
    Thanks for your email and comments for John H Fingert et al.
    In our work, we aim to characterize the genotype(s), phenotype(s) and age-related penetrance in a Chinese family with primary open-angle glaucoma (POAG). We recruited a four-generation Chinese family with 22 participants and identified a novel heterozygous MYOC gene mutation (exon3 c.1309T>C p.Y437H) only among seven POAG patients and one ocular hypertension (OHT) patient. Further, we summarized the exact phenotype characterization of MYOC Y437H mutation and calculated the age-related penetrance of this family. Hopefully, we can do a favor in establishing genotype–phenotype correlations, which play a significant role in predicting the range of phenotypic variation of a specific mutation, in managing the disease better and in genetic counselling.
    To the best of our knowledge, this is the first report of Y437H mutation in Chinese.Thus, we titled our work as “A novel MYOC gene mutation in a Chinese family with primary open-angle glaucoma”, which we really mean is a novel mutation only in Chinese population. We are very sorry about the misunderstanding the inappropriate title of our article may cause. In “Molecular analysis” section, we have affirmed that the Y437H mutation has been reported and referred previous article titled” Identification of a gene that causes primary open angle glaucoma” and so on.
    To avoid above misunderstanding ever happening, if it is possible we’d li...

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    Conflict of Interest:
    None declared.
  • Published on: 19 September 2019
    Previous Reports of Tyr437His mutation
    • John H Fingert, Professor University of Iowa
    • Other Contributors:
      • Wallace LM Alward, Professor
      • Edwin M Stone, Professor
      • Val C Sheffield, Professor

    Dear Editors,

    The British Journal of Ophthalmology article, “Novel MYOC gene mutation in a Chinese family with primary open angle glaucoma” by Lei and coworkers describes a Tyr437His mutation in the myocilin gene. Contrary to descriptions in the title, abstract, and text of this article, the Tyr437His mutation is not novel. We and others have previously reported the same Tyr437His mutation in several publications dating back to 1997 [1-5].

    1 Stone EM, Fingert JH, Alward WLM, et al. Identification of a Gene That Causes Primary Open Angle Glaucoma. Science 1997;275:668–70.
    2 Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998;338:1022–7.
    3 Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998;63:1549–52.
    4 Fingert JH, Héon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899–905.
    5 Fingert JH, Stone EM, Sheffield VC, et al. Myocilin glaucoma. Survey of Ophthalmology 2002;47:547–61.

    Conflict of Interest:
    None declared.