Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASID)
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASID)
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DOI：
10.1097/01.ijg.0000243467.28590.6a
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发表时间：
2006-12-01
影响因子：
2
通讯作者：
Rautenstrauss, Bernd
中科院分区：
文献类型：
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作者：
Chavarria-Soley, Gabriela;Michels-Rautenstrauss, Karin;Rautenstrauss, Bernd
目的：该研究旨在确定21名患有不同形式眼前节发育不全的指数患者的潜在遗传缺陷。方法：对10例Peters畸形、8例Rieger畸形和3例无虹膜患者的PAX6、PITX2、FOXC 1和CYP1B1基因进行序列分析。所有患者均接受了完整的眼部检查，包括裂隙灯显微镜检查、眼底镜检查、眼压描记术和前房角镜检查的眼前节评估。使用21对内含子引物扩增FOXC 1、CYP1B1、PITX 2和PAX 6基因的编码外显子，在自动测序仪（ABI 3730）上进行序列分析。我们发现在患有Rieger异常和无虹膜的个体中，分别在CYP1B1和PAX6中存在突变。10例Peters异常患者中没有一个在我们筛选的4个基因中有致病突变。结论：我们的研究结果表明原发性先天性青光眼和眼前段发育不全疾病可能在CYP1B1通路中有共同的分子病理生理学。
Purpose: The study intended to define the underlying genetic defects for 21 index patients affected with different forms of anterior segment dysgenesis. Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose.Methods: Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in this study. All patients underwent a complete eye examination, including anterior segment evaluation, with slit-lamp microsocopy, fundoscopy, tonography, and gonioscopy. Twenty-one intronic primer pairs were used to amplify the coding exons of the FOXC1, CYP1B1, PITX2, and PAX6 genes for sequence analysis on an automated sequencer (ABI 3730).Results: We were able to detect mutations in 5 of 21 patients with anterior segment malformations. We found mutations in individuals suffering from Rieger anomaly and aniridia, in CYP1B1 and PAX6, respectively. None of the 10 Peters anomaly patients had causative mutations in any of the 4 genes we screened.Conclusions: Our results suggest primary congenital glaucoma and the anterior segment dysgenesis disorders may share a common molecular pathophysiology in the CYP1B1 pathway.