FIGURE

Figure 1

ID

ZDB-FIG-260118-18

Publication

Stringer et al., 2025 - Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA

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Figure 1

Zebrafish in vivo functional assays can rapidly provide precious information to clinicians regarding the pathogenicity of variants of uncertain significance (VUS).

(A) Schematic timeline of infant development highlighting the clinical/timeframe dilemma for detection and confirmation of SMN1-VUS pathogenicity for early-onset SMA (Type I/II), i.e., treatments need to be implemented before the first major clinical signs. Available treatments are expensive and potentially harmful if unnecessary, emphasizing the need for rapid and innovative VUS-testing approaches within a timeframe that aligns with disease progression. (B) Zebrafish functional/complementation assays can quickly provide valuable information on VUS-pathogenicity in less than 3 months, supporting clinicians in their decision process and in a clinically helpful timeframe. This rapid testing framework is applicable not only to spinal muscular atrophy (SMA) but also to a wide range of pediatric diseases, offering significant benefits in clinical practice.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ EMBO Mol. Med.