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DOI 10.1016/j.gim.2025.101375

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2025

AUTS2-related syndrome: Insights from a large European cohort.

Loberti Lorenzo, Adamo Loredaria, Antolini Enrica, Casamassima Giulia, Destrèe Anne, Brunetti-Pierri Nicola, Genevieve David, Christophe Philippe, Coubes Christine, Van Esch Hilde, Herget Theresia, Kortüm Fanny, Lisfeld Jasmin, Möllring Anna Charlotte, Zenker Martin, Levy Jonathan, Perrin Laurence, Tabet Anne-Claude, Maruani Anna, Sorlin Arthur, Stieber Daniel, Herissant Lucas, Dahan Karin, Sinibaldi Lorenzo, Capolino Rossella, Dentici Maria Lisa, Dallapiccola Bruno, Novelli Antonio, Garavelli Livia, Caraffi Stefano Giuseppe, Piatelli Gianluca, Valenzuela Irene, Digilio Maria Cristina, Caumes Roseline, Knopp Cordula, Chwiałkowska Karolina, Jezela-Stanek Aleksandra, Kwasniewski Miroslaw, Korotko Urszula, Gorzałczyńska Ewelina, Canitano Roberto, Grosso Salvatore, Rahikkala Elisa, Mattern Larissa, Elbracht Miriam, Zuffardi Orsetta, Caputo Valentina, Toschi Benedetta, Beunders Gea, Leeuwen Lisette, Elting Mariet W, van der Laan Liselot, Broekema Marjoleine F, Groffen Alexander J, van de Kamp Jiddeke M, van Haelst Mieke M, Alders Marielle, Mauro Salvatore Pietro, De Razza Francesca, Varvara Dora, Kick Johanna, Gaspar Harald, Braun Dominique, Lausberg Eva, Maier Andrea, Ruault Valentin, Genesio Rita, Tartaglia Marco, Tita Rossella, Bruttini Mirella, Longo Ilaria, Baldassarri Margherita, Mencarelli Maria Antonietta, Renieri Alessandra, Pinto Anna Maria

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Аннотация

PURPOSE: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters, AUTS2 encodes 2 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 individuals from different countries, suggesting mutational hotspots. Independent of the underlying defect at the AUTS2 locus, we observed that autistic behavior, hyperactivity, learning difficulties, and speech delay are common features of AUTS2-related syndrome. Among patients with SNVs, individuals carrying pathogenic variants affecting both longer and shorter AUTS2 transcripts showed a recognizable phenotype with microcephaly, brachycephaly, microretrognathia, broad nasal base, and anteverted nares. Behavioral disorders were more common in patients with variants affecting only the longer isoform. Arthrogryposis and stiff movements were only observed in patients with SNVs.

CONCLUSION

This study provides a comprehensive clinical characterization of AUTS2-related syndrome, reveals few genotype-phenotype correlations, and suggests that the disruption of the 2 distinct AUTS2 transcripts has a different impact on the clinical phenotype.

Для цитирования: Loberti Lorenzo, Adamo Loredaria, Antolini Enrica, Casamassima Giulia, Destrèe Anne, Brunetti-Pierri Nicola, Genevieve David, Christophe Philippe, Coubes Christine, Van Esch Hilde, Herget Theresia, Kortüm Fanny, Lisfeld Jasmin, Möllring Anna Charlotte, Zenker Martin, Levy Jonathan, Perrin Laurence, Tabet Anne-Claude, Maruani Anna, Sorlin Arthur, Stieber Daniel, Herissant Lucas, Dahan Karin, Sinibaldi Lorenzo, Capolino Rossella, Dentici Maria Lisa, Dallapiccola Bruno, Novelli Antonio, Garavelli Livia, Caraffi Stefano Giuseppe, Piatelli Gianluca, Valenzuela Irene, Digilio Maria Cristina, Caumes Roseline, Knopp Cordula, Chwiałkowska Karolina, Jezela-Stanek Aleksandra, Kwasniewski Miroslaw, Korotko Urszula, Gorzałczyńska Ewelina, Canitano Roberto, Grosso Salvatore, Rahikkala Elisa, Mattern Larissa, Elbracht Miriam, Zuffardi Orsetta, Caputo Valentina, Toschi Benedetta, Beunders Gea, Leeuwen Lisette, Elting Mariet W, van der Laan Liselot, Broekema Marjoleine F, Groffen Alexander J, van de Kamp Jiddeke M, van Haelst Mieke M, Alders Marielle, Mauro Salvatore Pietro, De Razza Francesca, Varvara Dora, Kick Johanna, Gaspar Harald, Braun Dominique, Lausberg Eva, Maier Andrea, Ruault Valentin, Genesio Rita, Tartaglia Marco, Tita Rossella, Bruttini Mirella, Longo Ilaria, Baldassarri Margherita, Mencarelli Maria Antonietta, Renieri Alessandra, Pinto Anna Maria. AUTS2-related syndrome: Insights from a large European cohort.. Genetics in medicine : official journal of the American College of Medical Genetics. 2025. DOI: 10.1016/j.gim.2025.101375.

Предметные рубрики MeSH

HumansMaleFemaleIntellectual DisabilityAutism Spectrum DisorderEuropeTranscription FactorsChildPolymorphism, Single NucleotideChild, PreschoolDevelopmental DisabilitiesCohort StudiesPhenotypeGenetic Association StudiesAdolescentCytoskeletal ProteinsInfantMutationSyndromeGenotype
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