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A recent study proposed that rare heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> determine <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content> aetiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To investigate the contribution of <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> to <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content>, we Sanger sequenced <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> in 42 unrelated Polish patients with <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content> and 49 Polish individuals with high myopia (<jats:styled-content style=\"fixed-case\">HM<\/jats:styled-content>) and compared the results with whole\u2010exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) data performed in 268 Polish individuals without ocular abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The average number of <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> non\u2010synonymous variants was 16.31 and 16.0 for individuals with <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HM<\/jats:styled-content>, respectively (p\u00a0=\u00a00.3724). All identified variants were previously reported. Alternative allele frequency (<jats:styled-content style=\"fixed-case\">AAF<\/jats:styled-content>) was determined based on the <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> results. Among missense variants, only one (rs528085780) has <jats:styled-content style=\"fixed-case\">AAF<\/jats:styled-content>\u00a0\u2264\u00a00.001 and was identified in one patient with sporadic <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content>. However, the resulting Arg1864Lys substitution was not predicted to be deleterious.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, we have not found a significant enrichment of sequence variants in <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> in Polish patients with <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content>. High prevalence of <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> variants identified in our <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content> group is typical for a common genetic variation observed in general population. Our findings indicate that variation in <jats:italic><jats:styled-content style=\"fixed-case\">ZNF<\/jats:styled-content>469<\/jats:italic> is not responsible for <jats:styled-content style=\"fixed-case\">KTCN<\/jats:styled-content> and other genetic variants are involved in the development and progression of this disease in Polish patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12968","type":"journal-article","created":{"date-parts":[[2016,1,25]],"date-time":"2016-01-25T07:19:34Z","timestamp":1453706374000},"page":"289-294","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Evidence against <i><scp>ZNF<\/scp>469<\/i> being causative for keratoconus in Polish patients"],"prefix":"10.1111","volume":"94","author":[{"given":"Justyna A.","family":"Karolak","sequence":"first","affiliation":[{"name":"Department of Genetics and Pharmaceutical Microbiology Poznan University of Medical Sciences Poznan 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