Mutation screen of P4HA2 gene in Tujia high myopia patients

Authors:Yang Lin,  Li Tuo,  Cai Xiaojun,  Ke Min,  Chen Zhongshan
DOI: 10.3760/cma.j.issn.2095-0160.2019.09.010
Published 2019-09-10
Cite as Chin J Exp Ophthalmol, 2019,37(9): 736-739.

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.

Key words:

High myopia; P4HA2 gene; Sanger sequence; Gene mutation

Contributor Information

Yang Lin
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
Li Tuo
Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi 445000, China
Cai Xiaojun
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
Ke Min
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
Chen Zhongshan
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
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