A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

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dc.contributor.authorYadav, Manojen_US
dc.contributor.authorYadav, Anshuen_US
dc.contributor.authorBhardwaj, Aartien_US
dc.contributor.authorDhull, Chand Singhen_US
dc.contributor.authorSachdeva, Sumiten_US
dc.contributor.authorYadav, Rituen_US
dc.contributor.authorTanwar, Mukeshen_US
dc.date.accessioned2023-08-25T06:38:01Z
dc.date.available2023-08-25T06:38:01Z
dc.date.issued2023-08
dc.description.abstractPurpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.en_US
dc.identifier.affiliationsDepartment of Genetics, Maharshi Dayanand University, Rohtak, Harayana, Indiaen_US
dc.identifier.affiliationsRegional Institute of Ophthalmology, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, Indiaen_US
dc.identifier.citationYadav Manoj, Yadav Anshu, Bhardwaj Aarti, Dhull Chand Singh, Sachdeva Sumit, Yadav Ritu, Tanwar Mukesh. A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG. Indian Journal of Ophthalmology. 2023 Aug; 71(8): 3016-3023en_US
dc.identifier.issn1998-3689
dc.identifier.issn0301-4738
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225173
dc.languageenen_US
dc.publisherAll India Ophthalmological Societyen_US
dc.relation.issuenumber8en_US
dc.relation.volume71en_US
dc.source.urihttps://doi.org/10.4103/IJO.IJO_3383_22en_US
dc.subjectCytochrome P450en_US
dc.subjectjuvenile open?angle glaucomaen_US
dc.subjectmyocilinen_US
dc.subjectoptineurinen_US
dc.subjectprimary congenital glaucomaen_US
dc.titleA rare optineurin mutation in an Indian family with coexistence of JOAG and PCGen_US
dc.typeJournal Articleen_US
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