- 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;
- Bujakowska, Kinga
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.