OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Conclusions
Our results indicate that proper OTX2 dosage seems to be critical for the normal development of the first and second branchial arches. Overall, we demonstrated that OTX2 genomic duplications are a recurrent cause of OAVS marked by auricular malformations of variable severity.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Celse, T., Tingaud-Sequeira, A., Dieterich, K., Siegfried, G., Lecaignec, C., Bouneau, L., Fannemel, M., Salaun, G., Laffargue, F., Martinez, G., Satre, V., Vieville, G., Bidart, M., Soussi Zander, C., Turesson, A.-C., Splitt, M., Reboul, D., Chiesa, J., Tags: Copy-number variation Source Type: research