Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus [Genetics]

Conclusions.
The presence of heterozygous loss-of-function alleles in the ZNF469 gene did not cause keratoconus in the individuals examined. None of the rare nonsynonymous ZNF469 variants identified in the familial cohort conferred a high risk of keratoconus; therefore, genetic variants contributing to disease pathogenesis in these 11 families remain to be identified.

Source: Investigative Ophthalmology - January 23, 2015 Category: Opthalmology Authors: Davidson, A. E., Borasio, E., Liskova, P., Khan, A. O., Hassan, H., Cheetham, M. E., Plagnol, V., Alkuraya, F. S., Tuft, S. J., Hardcastle, A. J. Tags: Genetics Source Type: research