Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north India

Abstract

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.