Department of Ophthalmology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
Department of Ophthalmology, Health Sciences University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.
Int Ophthalmol. 2021 Jul;41(7):2565-2574. doi: 10.1007/s10792-021-01815-z. Epub 2021 Mar 21.
To determine the common gene mutation in patients with primary congenital glaucoma (PCG) in the Southeast region of Turkey via genetic analysis and to evaluate whether there were other gene mutations in these patients.
A total of 25 patients with PCG were included in this study. We performed sequence analysis including all exons of cytochrome p450 1B1 (CYP1B1), myocilin (MYOC), forkhead box C1 (FOXC1), and paired-like homeodomain 2 (PITX2) genes of the obtained samples. Further, we analyzed the results using the Nextgen analysis program.
The CYP1B1 gene mutation was detected in 20 (80%) of 25 patients, and FOXC1 gene mutation was detected in one (4%) patient. The mutation site of nine (45%) of the 20 CYP1B1 genes was found in the second exon. The pathogenic variant (p.Gly61Glu) was observed in 12 (60%) patients (in the first and second exons); the mutation type of six (50%) of these patients was homozygous. The mutation site of one patient with FOXC1 gene mutation was found to be in the first exon; its pathogenic variant was p.Met400lle. The mutation type in this gene was observed to be heterozygous. Lastly, there were no mutations in the MYOC, FOXC1, and PITX2 genes in combination with the CYP1B1 gene mutation.
The most common cause of PCG in our region is the CYP1B1 gene mutation, and the most frequent pathogenic variant is c.182G > A (p.Gly61Glu). We also determined that the CYP1B1 gene mutation was alone and did not occur with other gene mutations (MYOC, FOXC1, and PITX2).
通过基因分析确定土耳其东南部地区先天性青光眼（PCG）患者的常见基因突变，并评估这些患者是否存在其他基因突变。
本研究共纳入 25 例 PCG 患者。我们对获得的样本进行了包括细胞色素 p450 1B1（CYP1B1）、肌球蛋白（MYOC）、叉头框 C1（FOXC1）和配对同源域 2（PITX2）基因所有外显子的序列分析。进一步使用 Nextgen 分析程序分析结果。
在 25 例患者中检测到 CYP1B1 基因突变 20 例（80%），FOXC1 基因突变 1 例（4%）。20 例 CYP1B1 基因中 9 例（45%）的突变位点位于第二外显子。在 12 例（60%）患者中观察到致病性变异（p.Gly61Glu）（第一和第二外显子）；这些患者中有 6 例（50%）的突变类型为纯合子。FOXC1 基因突变患者的突变部位位于第一外显子，其致病性变异为 p.Met400lle。该基因的突变类型为杂合子。最后，在 CYP1B1 基因突变的情况下，未发现 MYOC、FOXC1 和 PITX2 基因突变。
在我们的地区，PCG 最常见的原因是 CYP1B1 基因突变，最常见的致病性变异是 c.182G > A（p.Gly61Glu）。我们还确定 CYP1B1 基因突变是单独发生的，与其他基因突变（MYOC、FOXC1 和 PITX2）无关。
