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Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma

  • Authors:
    • Wanlin Fan
    • Wan Li
    • Chaoye Duan
    • Wenbo Zhang
    • Yongwei Guo
    • Fei Chen
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, P.R. China, Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, D‑50937 Cologne, Germany
    Copyright: © Fan et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3263-3270
    |
    Published online on: August 19, 2020
       https://doi.org/10.3892/mmr.2020.11441
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Abstract

Although primary open‑angle glaucoma (POAG)‑related mutations in the myocilin (MYOC) gene have been reported, the underlying associations remain poorly understood. In the present study, the relationship between a MYOC mutation and POAG was investigated using ophthalmic examination and total exon gene sequencing in a Chinese family comprised of 5 individuals with POAG and 15 unaffected individuals. Pathogenic mutations underlying POAG were identified by whole‑exome sequencing and subsequently validated by Sanger sequencing. Of the family members, nine (45%) harbored heterozygous p.D208Y mutations; among these, five had POAG and four were unaffected. The mean age at diagnosis was 26.2±4.12 years and the mean intraocular pressure (IOP) was 39.7±16.58 mmHg; all affected members complained of vision loss, headaches and eye swelling. Among the five cases of POAG, two presented with blindness. Among 10 members of the family who underwent comprehensive ophthalmologic examination, 3 individuals exhibited severe visual field defects. The mean age at the time of operation was 27.2±3.54 years. In the present study, a novel MYOC mutation (c.G622T: p.D208Y) was identified that was associated with severe visual impairment, high IOP and the need for frequent surgical interventions. Some carriers of the mutation were young and did not show signs of glaucoma. These individuals should be followed‑up to firmly establish whether the mutated gene is pathogenic for POAG.
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Copy and paste a formatted citation
Spandidos Publications style
Fan W, Li W, Duan C, Zhang W, Guo Y and Chen F: Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma . Mol Med Rep 22: 3263-3270, 2020.
APA
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., & Chen, F. (2020). Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma . Molecular Medicine Reports, 22, 3263-3270. https://doi.org/10.3892/mmr.2020.11441
MLA
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., Chen, F."Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma ". Molecular Medicine Reports 22.4 (2020): 3263-3270.
Chicago
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., Chen, F."Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma ". Molecular Medicine Reports 22, no. 4 (2020): 3263-3270. https://doi.org/10.3892/mmr.2020.11441
Copy and paste a formatted citation
x
Spandidos Publications style
Fan W, Li W, Duan C, Zhang W, Guo Y and Chen F: Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma . Mol Med Rep 22: 3263-3270, 2020.
APA
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., & Chen, F. (2020). Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma . Molecular Medicine Reports, 22, 3263-3270. https://doi.org/10.3892/mmr.2020.11441
MLA
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., Chen, F."Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma ". Molecular Medicine Reports 22.4 (2020): 3263-3270.
Chicago
Fan, W., Li, W., Duan, C., Zhang, W., Guo, Y., Chen, F."Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma ". Molecular Medicine Reports 22, no. 4 (2020): 3263-3270. https://doi.org/10.3892/mmr.2020.11441
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