biostudies-literatureSangermano RNEI NIH HHSFoundation Fighting Blindness (FFB)U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI)Agence Nationale de la Recherche (French National Research Agency)58https://www.ebi.ac.uk/biostudies/studies/S-EPMC11549414biostudies-literatureUnknown9(1)Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.373+91A>G, which led to aberrant splicing. To our knowledge this is the first likely pathogenic deep-intronic variant identified in this gene. Analysis of all reported and novel CFAP410 variants revealed no clear correlation between the severity of the CFAP410-associated phenotypes and the identified causal variants. This is supported by the fact that the NPJ genomic medicineCoding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.PMC11549414R01EY012910EGI-GE-1218-0753-UCSDHG009141ANR-10-LABX-65ANR-11-IDEX-0004-0R01 EY012910R01 EY035717P30 EY014104R01EY026904ANR-18-IAHU-0001UM1HG008900Sahel JAAudo ISangermano RMukai SPlace EMPierce EABujakowska KMO'Heir EZeitz CAntonio ADuncan JLCondroyer CNavarro JZanlonghi XHan JPrice CDiTroia SGupta PHuckfeldt RMfalseCoding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.373+91A>G, which led to aberrant splicing. To our knowledge this is the first likely pathogenic deep-intronic variant identified in this gene. Analysis of all reported and novel CFAP410 variants revealed no clear correlation between the severity of the CFAP410-associated phenotypes and the identified causal variants. This is supported by the fact that the 2024-01-01T00:00:00Z2024 Nov2026-06-01T12:48:55.745Z2025-04-19T17:27:25.271ZS-EPMC115494143951646210.1038/s41525-024-00439-3