Publication: AUTS2-related Syndrome: Insights from a large European cohort
AUTS2-related Syndrome: Insights from a large European cohort
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Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., Van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A., … Braun, D. L. (2025). AUTS2-related Syndrome: Insights from a large European cohort. Genetics in Medicine, 27(6), 101375. https://doi.org/10.1016/j.gim.2025.101375
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Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative transcriptional activator.
Methods: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2- related syndrome cohort of 58 patients harboring genomic rearrangements or single nucleotide variants (SNVs).
Results: Pathogenic SNVs were recurrently found in i
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Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., Van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A., … Braun, D. L. (2025). AUTS2-related Syndrome: Insights from a large European cohort. Genetics in Medicine, 27(6), 101375. https://doi.org/10.1016/j.gim.2025.101375
