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

Purpose: 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.

Cervical cancer awareness and HPV vaccine acceptability among females in Delhi: A cross-sectional study

AIMS: The aim of this study is to assess the awareness about cervical cancer and the acceptability of cytological screening and vaccine against human papilloma virus (HPV) among women in Delhi, the national capital of India. MATERIALS AND METHODS: A cross-sectional survey of women was conducted in Delhi to assess the awareness of cervical cancer and acceptability of Papanicolaou (Pap) test and HPV vaccine. The sample size of the population was 450, and a pre-tested questionnaire was administered to them. RESULTS: Majority of the participants (85.11%) were aware of cervical cancer and were willing to undergo diagnosis by Pap test (84.6%). As far as vaccination was concerned, 63.14% found the HPV vaccine acceptable for their daughters. However, very few participants were willing to vaccinate themselves against HPV. CONCLUSION: The high awareness among females in Delhi about cervical cancer and acceptability of screening programs, if done free of cost, shows a positive trend. The only inhibition about HPV vaccine was primarily due to concerns about postvaccination complications. However, inclusion of HPV vaccine in Government-sponsored immunization program would go a long way in increasing the acceptability of the vaccine.