Publication: Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Abou Jamra, R., Schlump, J.-U., DeMille, D., Bayrak-Toydemir, P., Nelson, G. R., Wong, K. N., Duncanson, L., Mosera, M., Gilissen, C., Vissers, L. E. L. M., … et al. (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Medicine, 16, 72. https://doi.org/10.1186/s13073-024-01339-y
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Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects.
Methods Evolutionary constraints suggest that other modes-of-inheritance could be at play.
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Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Abou Jamra, R., Schlump, J.-U., DeMille, D., Bayrak-Toydemir, P., Nelson, G. R., Wong, K. N., Duncanson, L., Mosera, M., Gilissen, C., Vissers, L. E. L. M., … et al. (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Medicine, 16, 72. https://doi.org/10.1186/s13073-024-01339-y
