What question did this study set out to answer?

To evaluate the pathogenicity of variants of uncertain significance (VUSs) in ciliopathies using a zebrafish model.

May 14, 2026European Journal of Clinical Investigation0 citationsOpen Access

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies

CACarla AresiUniversity of Pavia FTFrancesca TonelliUniversity of Pavia CMC. MazzottaUniversity of Pavia

Key Points

To evaluate the pathogenicity of variants of uncertain significance (VUSs) in ciliopathies using a zebrafish model.
Developed a zebrafish morpholino knockdown model targeting ahi1.
Conducted phenotypic assessments of ciliopathy-related defects.
Evaluated the impact of genetic variants using morphant zebrafish.
Identified significant phenotypic defects linked to specific VUSs.
Demonstrated that zebrafish morphants reliably reflect ciliopathy-associated genetic variant effects.

Abstract

A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy-related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy-associated genetic variants.

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Cite This Study

Aresi et al. (Fri,) studied this question.

synapsesocial.com/papers/6a0565f4a550a87e60a1e228 https://doi.org/https://doi.org/10.1111/eci.70220

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