1. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
- Author
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Sangermano, Riccardo, Gupta, Priya, Price, Cherrell, Han, Jinu, Navarro, Julien, Condroyer, Christel, Place, Emily, Antonio, Aline, Mukai, Shizuo, Zanlonghi, Xavier, Sahel, José-Alain, DiTroia, Stephanie, OHeir, Emily, Duncan, Jacque, Pierce, Eric, Zeitz, Christina, Audo, Isabelle, Huckfeldt, Rachel, and Bujakowska, Kinga
- Abstract
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 frequently encountered missense variant p.(Arg73Pro), often found in syndromic cases, was also associated with non-syndromic retinal degeneration. This study expands the current knowledge of CFAP410-associated ciliopathy by enriching its mutational landscape and supports its association with non-syndromic retinal degeneration.
- Published
- 2024