Pathogenic genes of primary open angle glaucoma in a Chinese family
10.3980/j.issn.1672-5123.2023.1.35
- VernacularTitle:一个中国原发性开角型青光眼家系致病基因研究
- Author:
Juan-Juan XIE
1
;
Ying CHEN
1
;
Guo-Wei ZHANG
1
;
Hai-Yue CUI
1
;
Meng-Yao HAO
1
;
Shao-Wen WANG
1
;
Zhen JIA
1
;
Chun-Long XU
1
;
Hong LU
1
Author Information
1. Department of Ophthalmology, Affiliated Hospital of Nantong University, Nantong 226000, Jiangsu Province, China
- Publication Type:Journal Article
- Keywords:
primary open angle glaucoma;
LTBP2 gene;
gene mutation;
whole exon sequencing;
inheritance
- From:
International Eye Science
2023;23(1):175-180
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To identify the pathogenic gene in a family with primary open angle glaucoma(POAG)from Nantong, Jiang Province, and to analyze its clinical phenotype and pathogenic mechanism.METHOD: A POAG pedigree was reviewed and recruited from January 2020 to December 2020, which spans 5 generations, with 33 people in total. A total of 13 family members were enrolled in our study, of whom 4 members were diagnosed with POAG, 1 with ocular hypertension(OHT), and the other 8 members were unaffected. Detailed medical history was collected and a comprehensive ophthalmic examination was performed. High throughput sequencing was used to screen for possible pathogenic gene, and Sanger sequencing was used to verify candidate pathogenic gene.RESULT: All patients in this family were found to have elevated intraocular pressure(IOP)and diagnosed with glaucoma at a young age, requiring surgical treatments to control the IOP. The highest IOP of proband was up to 55mmHg. A heterozygous mutation(c.1197C>A, p.Phe399Leu)of LTBP2 gene was found in the proband genome by whole exon sequencing(WES). Sanger sequencing verified that the mutation was not isolated from the family disease.CONCLUSION: LTBP2 (c.1197C>A)mutation was not the pathogenic gene of POAG in this family. However, the pathogenic potential of LTBP2 gene in POAG cases is worth studying.
