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Genetic analysis of patients with primary congenital glaucoma

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Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusion

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).

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Data Availability

The authors declare that materials described in the manuscript, including all relevant raw data, will be freely available to any scientist wishing to use them for non-commercial purposes, without breaching participant confidentiality. Moreover, the authors ensure that their datasets are presented in the main manuscript.

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Funding

The authors did not receive support from any organization for the submitted work.

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Authors and Affiliations

  1. Department of Ophthalmology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey

    Sedat Ava, Mine Karahan, Seyfettin Erdem & Uğur Keklikçi

  2. Department of Ophthalmology, Health Sciences University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey

    Atılım Armağan Demirtaş

  3. Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey

    Diclehan Oral

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  1. Sedat Ava
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by SA, AAD, MK, SE, and UK. Genetic analysis was performed by DO. The first draft of the manuscript was written by SA, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Atılım Armağan Demirtaş.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Institutional and/or national research committee (Ethics Committee of Dicle University Faculty of Medicine, Diyarbakır, Turkey, [decision date: December 05, 2019, No. 09]) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from legal guardians. Additional informed consent was obtained from all legal guardians for whom identifying information is included in this article.

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Ava, S., Demirtaş, A.A., Karahan, M. et al. Genetic analysis of patients with primary congenital glaucoma. Int Ophthalmol 41, 2565–2574 (2021). https://doi.org/10.1007/s10792-021-01815-z

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