Mutation screen of P4HA2 gene in Tujia high myopia patients
10.3760/cma.j.issn.2095-0160.2019.09.010
- VernacularTitle: 土家族高度近视患者P4HA2基因突变筛查
- Author:
Lin YANG
1
;
Tuo LI
2
;
Xiaojun CAI
1
;
Min KE
1
;
Zhongshan CHEN
1
Author Information
1. Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
2. Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi 445000, China
- Publication Type:Clinical Trail
- Keywords:
High myopia;
P4HA2 gene;
Sanger sequence;
Gene mutation
- From:
Chinese Journal of Experimental Ophthalmology
2019;37(9):736-739
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the mutation of P4HA2 gene in Tujia high myopia patients.
Methods:Clinical data and genomic DNA were collected from 288 Tujia patients with high myopia, whose spherical error ≥-6.00 diopters and axial length≥26 mm.All coding exons regions of P4HA2 were screened in patients to detect causative mutation by Sanger sequencing.The detected mutation was further screened in 192 normal control chromosomes in the same district.The pathogenicity of genetic mutations was predicted through bioinformatics analysis.This study followed the Declaration of Helsinki.All patients or their guardians signed informed consent.
Results:Four variations of P4HA2 gene were found in 288 patients, including one missense mutations(c.145C>A), two in-containing mutations (c.1306-62C>T, c.82+ 22C>T) and one insertion mutation (c.179+ 16_179+ 17 ins T). Missense mutation c. 145C>A was predicted as suspicious pathogenic gene by Polyphen2.According to the standard of ACMG in the United States, the variation was uncertain in pathogenicity.
Conclusions:Missense mutation c. 145C>A in P4HA2 gene is a suspicious pathogenic gene mutation in Tujia patients with high myopia.
