Evidence against ZNF469 being causative for keratoconus in Polish patients

Acta Ophthalmologica
Justyna A KarolakMarzena Gajecka

Abstract

Keratoconus (KTCN) is a degenerative disorder characterized by stromal thinning and protrusion of the cornea, resulting in severe impairment of visual function. A recent study proposed that rare heterozygous mutations in ZNF469 determine KTCN aetiology. To investigate the contribution of ZNF469 to KTCN, we Sanger sequenced ZNF469 in 42 unrelated Polish patients with KTCN and 49 Polish individuals with high myopia (HM) and compared the results with whole-exome sequencing (WES) data performed in 268 Polish individuals without ocular abnormalities. The average number of ZNF469 non-synonymous variants was 16.31 and 16.0 for individuals with KTCN and HM, respectively (p = 0.3724). All identified variants were previously reported. Alternative allele frequency (AAF) was determined based on the WES results. Among missense variants, only one (rs528085780) has AAF ≤ 0.001 and was identified in one patient with sporadic KTCN. However, the resulting Arg1864Lys substitution was not predicted to be deleterious. In summary, we have not found a significant enrichment of sequence variants in ZNF469 in Polish patients with KTCN. High prevalence of ZNF469 variants identified in our KTCN group is typical for a common genetic variation observed in ...Continue Reading

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Citations

Jun 29, 2016·Eye and Vision·Yelena BykhovskayaYaron S Rabinowitz
Dec 30, 2016·Molecular Genetics and Genomics : MGG·Justyna A Karolak, Marzena Gajecka
Sep 22, 2017·The Open Ophthalmology Journal·Sarah MoussaHerbert Reitsamer
Apr 18, 2019·Investigative Ophthalmology & Visual Science·Michal KabzaMarzena Gajecka
Nov 8, 2017·Ophthalmic Genetics·Hanne ValgaerenGuy Van Camp
Apr 23, 2020·Annual Review of Vision Science·Sionne E M Lucas, Kathryn P Burdon
Apr 30, 2017·Ophthalmic Genetics·Joanna Swierkowska, Marzena Gajecka

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