Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

• Published in: Indian journal of ophthalmology Vol. 66; no. 2; pp. 229 - 232
• Main Authors: Palayil, Isham, Priya, S, Sivan, N, Madhivanan, Nivean, Venkatachalam, Panneer, Jagadeesan, Madhavan
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01.02.2018; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Analysis; Aniridia; Cataracts; Chromosomes; Consent; Cornea; Frameshift mutation; Gene mutation; Genes; Genetic aspects; Genetic counseling; Genotypes; Glaucoma; Hospitals; Hypoplasia; Indians (Asian people); Management; Mutation; mutation screening; Nystagmus; Ophthalmology; Original; Patients; PAX6; Pax6 protein; Peripheral blood; Phenotypes; Physiological aspects; Polymerase chain reaction; India; mutation screening; PAX6; Aniridia

Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent...