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

Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma. Mol Med Rep. 2020 Aug 19;: Authors: Fan W, Li W, Duan C, Zhang W, Guo Y, Chen F 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 n...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research