Недостаточная доза белка ERCC8, вызванная мутацией сдвига рамки считывания, связана с кератоконусом с врожденной катарактой

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.

Keratoconus (KC) is a progressive corneal ectatic disorder characterized by corneal ectasia and thinning, resulting in reduced vision, irregular astigmatism, and corneal scarring, eventually necessitating corneal transplantation.¹ The worldwide prevalence of KC is approximately 1:2000.² The onset of KC usually occurs during adolescence, then progresses with age and has a lifelong effect on patients.³ KC has a clear genetic tendency, and genetic factors play a critical role in its pathogenesis.^4,5 Recently, the use of high-throughput omics techniques has promoted the advancement of KC genetics. Until now, more than 80 KC-associated genes or regions have been identified by linkage analysis, genomewide association studies (GWAS), whole exome or genome sequencing (WES or WGS), or candidate gene association studies.⁶ However, owing to the genetic heterogeneity among patients with KC in different populations, the genetic etiology of most cases has not been effectively identified, and new candidate genes need to be explored.