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

Fan,Wanlin; Li,Wan; Duan,Chaoye; Zhang,Wenbo; Guo,Yongwei; Chen,Fei

doi:10.3892/mmr.2020.11441

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
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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
Published online on: August 19, 2020 https://doi.org/10.3892/mmr.2020.11441
Pages: 3263-3270
Copyright: © Fan et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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