Mutation screen of P4HA2 gene in Tujia high myopia patients / 中华实验眼科杂志

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.

Mutation screen of P4HA2 gene in Tujia high myopia patients / 中华实验眼科杂志

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.