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Research Article
Mukesh Tanwar
Maharshi Dayanand University
Corresponding Author
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Purpose
Juvenile-onset open-angle glaucoma (JOAG) is an uncommon type of primary open-angle glaucoma that affects individuals during childhood and early adulthood. Pathogenic variants in the myocilin gene account for varying frequencies of primary open-angle glaucoma and JOAG cases in different populations. This study has screened and identified novel and previously identified myocilin variants in a north Indian cohort of JOAG patients.
Methods
Eighty unrelated JOAG cases and one hundred controls have been screened for MYOC variants by PCR and DNA sequencing of exons.
Results
DNA sequencing revealed seventeen different variants. Out of these variants, five (p.G122A, p.R136I, p.S173T, p.K216I, and p.R200KTer*15) were novel and registered in NCBI. Pathogenic MYOC variants identified in 7.5% of JOAG cases.
Conclusion
Pathogenic myocilin variants account for 7.5% of cases of JOAG in our patient’s cohort. This study augments the mutation spectrum of the MYOC gene, provides population-specific information, and aids in better understanding the underlying lesions of the disease.
Keywords
juvenile-onset open-angle glaucoma, myocilin gene, mutation
Figure 1
Figure 2
No competing interests reported.
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This is a preprint. It has not completed peer review.
Research Article
Mukesh Tanwar
Maharshi Dayanand University
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 11 Mar, 2021
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Epigenetics & Genomics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Purpose
Juvenile-onset open-angle glaucoma (JOAG) is an uncommon type of primary open-angle glaucoma that affects individuals during childhood and early adulthood. Pathogenic variants in the myocilin gene account for varying frequencies of primary open-angle glaucoma and JOAG cases in different populations. This study has screened and identified novel and previously identified myocilin variants in a north Indian cohort of JOAG patients.
Methods
Eighty unrelated JOAG cases and one hundred controls have been screened for MYOC variants by PCR and DNA sequencing of exons.
Results
DNA sequencing revealed seventeen different variants. Out of these variants, five (p.G122A, p.R136I, p.S173T, p.K216I, and p.R200KTer*15) were novel and registered in NCBI. Pathogenic MYOC variants identified in 7.5% of JOAG cases.
Conclusion
Pathogenic myocilin variants account for 7.5% of cases of JOAG in our patient’s cohort. This study augments the mutation spectrum of the MYOC gene, provides population-specific information, and aids in better understanding the underlying lesions of the disease.
Figure 1
Figure 2
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