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Contributions of the superoxide dismutase 1 and zinc finger protein 469 (ZNF469) genes to keratoconus
Vol 33, Issue 2, 2019
Abstract
Keratoconus (KC) is a multifactorial, progressive, degenerative corneal disorder with an incidence ofapproximately 1 in 2,000 subjects. Although, the most frequent type of KC is sporadic, there are manycases of familial KC, mainly inherited through an autosomal dominant pattern. KC is characterized bygenetic heterogeneity as it has been associated with a plurality of genes. The present report focuses onsuperoxide dismutase 1 (SOD1) and zinc finger protein 469 (ZNF469) genes which are involved in manycases of KC and other corneal pathologies including the relation of the ZNF469 mutations with BrittleCornea Syndrome (BCS).
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Supporting Agencies
Copyright (c) 2019 E. Loukovitis, E. Tsotridou, T. Vakalis, S. Asteriadis, T. Sousouras, Z. Zachariadis, P. Tranos, N. Kozeis, M. Balidis, G. Anogeianakis
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Medical Genetics, University of Torino Medical School, Italy
Department of Biomedical, Surgical and Dental Sciences, University of Milan, Italy