What type of study is this?

This is a Experimental Study study (also classified as: Animal Study).

Usmani–Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model

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Novel variant in AP1G1 shows altered phenotypes and neurodevelopmental impacts in zebrafish, suggesting its role in Usmani-Riazuddin syndrome.

Altered locomotor behavior was observed in zebrafish embryos injected with mutant AP1G1 mRNA, indicating a potential link to Usmani–Riazuddin syndrome.
Exome sequencing identified a novel missense variant in a patient, which was functionally characterized in zebrafish model.
Immunofluorescence techniques revealed differing intracellular distributions of AP-1 proteins in human fibroblasts with the novel variant.
The study highlights zebrafish as a model organism for observing neurodevelopmental consequences associated with genetic variants.

Imperatore et al. (2025) studied this question.

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Novel variant in AP1G1 shows altered phenotypes and neurodevelopmental impacts in zebrafish, suggesting its role in Usmani-Riazuddin syndrome.