Universität zu Köln

Fan, Wanlin, Li, Wan, Duan, Chaoye, Zhang, Wenbo, Guo, Yongwei ORCID: 0000-0001-9195-0770 and Chen, Fei (2020). Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open-angle glaucoma. Mol. Med. Rep., 22 (4). S. 3263 - 3271. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004

Full text not available from this repository.

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Fan, Wanlin UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Wan UNSPECIFIED UNSPECIFIED UNSPECIFIED Duan, Chaoye UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhang, Wenbo UNSPECIFIED UNSPECIFIED UNSPECIFIED Guo, Yongwei UNSPECIFIED orcid.org/0000-0001-9195-0770 UNSPECIFIED Chen, Fei UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-317511
DOI:	10.3892/mmr.2020.11441
Journal or Publication Title:	Mol. Med. Rep.
Volume:	22
Number:	4
Page Range:	S. 3263 - 3271
Date:	2020
Publisher:	SPANDIDOS PUBL LTD
Place of Publication:	ATHENS
ISSN:	1791-3004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language NON-SECRETION; ER STRESS; PREVALENCE; VARIANTS; LINKAGE Multiple languages Oncology; Medicine, Research & Experimental Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31751