Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.

Novel homozygous non-canonical splice variant in *CEP290* (c.1910-15_1910-11delinsTTACA)

This Human Genomics study describes and functionally characterizes a novel homozygous non-canonical splice variant in CEP290 (c.1910-15_1910-11delinsTTACA) in a patient with Joubert syndrome. CEP290 is among the most frequently implicated genes in this severe neurodevelopmental ciliopathy. Functional data confirm the variant's impact on splicing and protein function.

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Non-canonical CEP290 variants are notoriously difficult to interpret — the deep intronic LCA variant c.2991+1655A>G being the best-known example. This functional characterization demonstrates the importance of RNA analysis for validating such variants.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10