A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG
Manoj Yadav, Anshu Yadav, Aarti Bhardwaj, Chand Singh Dhull, Sumit Sachdeva, Ritu Yadav, Mukesh Tanwar- Ophthalmology
Purpose:
This study focused on the genetic screening of Myocilin (
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
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