Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during first years life without affecting other organs. Given this disease is one most frequent causes reversible blindness in childhood, main objective study was to propose new responsible gene candidates would allow a more targeted genetic approach and expand our knowledge about disease. We present whole exome sequencing (WES) 20 Spanish families with non-syndromic previous negative result on an ophthalmology next-generation panel. After ophthalmological evaluation collection peripheral blood samples from these families, WES performed. were able reach diagnosis 10% analyzed found genes could cause 35% cohort. Of variants found, 18.2% classified pathogenic, 9% likely 72.8% uncertain significance. However, we did not find conclusive results 55% studied, which suggests further studies needed. The us LONP1, ACACA, TRPM1, CLIC5, HSPE1, ODF1, PIKFYVE, CHMP4A potential investigate for their role cataracts, AQP5 locus 2q37 causal genes.