AUTS2-related syndrome: Insights from a large European cohort
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.
Authors
- Larissa Mattern (ORCID: https://orcid.org/0000-0003-1233-5652)
- Lucas Hérissant (ORCID: https://orcid.org/0000-0003-0065-5608)
- Eva Lausberg (ORCID: https://orcid.org/0000-0002-2042-0294)
- Dora Varvara (ORCID: https://orcid.org/0000-0002-2703-218X)
- Mirosław Kwaśniewski
- Bruno Dallapiccola (ORCID: https://orcid.org/0000-0002-5031-1013)
- Jonathan Lévy (ORCID: https://orcid.org/0000-0002-8822-816X)
- Salvatore Grosso (ORCID: https://orcid.org/0000-0002-0974-0596)
- Maria Cristina Digilio (ORCID: https://orcid.org/0000-0002-0205-9634)
- E. Antolini (ORCID: https://orcid.org/0009-0003-1825-2353)
- Irene Valenzuela (ORCID: https://orcid.org/0000-0003-2350-6058)
- Karin Dahan (ORCID: https://orcid.org/0000-0003-3036-7981)
- Maria Antonietta Mencarelli (ORCID: https://orcid.org/0000-0001-5131-3718)
- Martin Zenker (ORCID: https://orcid.org/0000-0003-1618-9269)
- Livia Garavelli (ORCID: https://orcid.org/0000-0002-7684-3982)
- Urszula Korotko (ORCID: https://orcid.org/0000-0002-1779-8368)
- Lorenzo Sinibaldi (ORCID: https://orcid.org/0000-0002-1371-936X)
- Roberto Canitano (ORCID: https://orcid.org/0000-0002-6584-658X)
- Lorenzo Loberti (ORCID: https://orcid.org/0000-0001-5020-8393)
- Maria Lisa Dentici (ORCID: https://orcid.org/0000-0002-9505-5906)
- Valentin Ruault (ORCID: https://orcid.org/0000-0003-0562-1706)
- Christophe Philippe (ORCID: https://orcid.org/0000-0001-7098-6520)
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0001-7126-2030)
- Aleksandra Jezela‐Stanek (ORCID: https://orcid.org/0000-0001-9814-0324)
- Anna Maria Pinto (ORCID: https://orcid.org/0000-0001-6259-6901)
- Benedetta Toschi (ORCID: https://orcid.org/0000-0003-4193-4128)
- Ilaria Longo
- Margherita Baldassarri (ORCID: https://orcid.org/0000-0002-0391-1980)
- Gea Beunders (ORCID: https://orcid.org/0000-0003-0655-6168)
- Loredaria Adamo (ORCID: https://orcid.org/0009-0002-0002-3483)
- Rossella Capolino
- Anne Destrèe (ORCID: https://orcid.org/0000-0001-9701-5396)
- Christine Coubes
- Gianluca Piatelli (ORCID: https://orcid.org/0000-0003-3754-0898)
- Mariëlle Alders (ORCID: https://orcid.org/0000-0002-7386-4868)
- Anne‐Claude Tabet (ORCID: https://orcid.org/0000-0003-2910-7744)
- Lisette Leeuwen (ORCID: https://orcid.org/0000-0002-1105-0455)
- Rossella Tita (ORCID: https://orcid.org/0000-0003-4876-7158)
- Dominique Braun (ORCID: https://orcid.org/0000-0002-4340-4334)
- Rita Genesio (ORCID: https://orcid.org/0000-0003-2640-7362)
- Orsetta Zuffardi
- Roseline Caumes (ORCID: https://orcid.org/0000-0002-7767-5087)
- Giulia Casamassima (ORCID: https://orcid.org/0000-0002-4823-0310)
- Cordula Knopp (ORCID: https://orcid.org/0000-0002-6126-6078)
- Stefano Giuseppe Caraffi (ORCID: https://orcid.org/0000-0002-5033-7854)
- Anna Möllring
- Jasmin Lisfeld
- Liselot van der Laan (ORCID: https://orcid.org/0000-0002-7800-8665)
- Alessandra Renieri (ORCID: https://orcid.org/0000-0002-0846-9220)
- Daniel Stieber
- Arthur Sorlin (ORCID: https://orcid.org/0000-0001-8008-9145)
- Hilde Van Esch (ORCID: https://orcid.org/0000-0002-9604-5726)
- Jiddeke M. van de Kamp (ORCID: https://orcid.org/0000-0001-6696-6009)
- Mirella Bruttini (ORCID: https://orcid.org/0000-0003-2895-4116)
- Nicola Brunetti‐Pierri (ORCID: https://orcid.org/0000-0002-6895-8819)
- Valentina S. Caputo (ORCID: https://orcid.org/0000-0002-4011-5238)
- David Geneviève (ORCID: https://orcid.org/0000-0001-6928-6287)
- Elisa Rahikkala (ORCID: https://orcid.org/0000-0003-2760-7059)
- Andrea Maier (ORCID: https://orcid.org/0000-0002-3427-4806)
- Laurence Perrin
- Theresia Herget (ORCID: https://orcid.org/0009-0005-5035-9534)
- Alexander J. Groffen (ORCID: https://orcid.org/0000-0003-0046-4027)
- Salvatore Di Mauro
- Mariet W. Elting
- Anna Maruani
- Miriam Elbracht
- Harald Gaspar
- Antonio Novelli
- Fanny Kortüm
- Karolina Chwiałkowska
- Marco Tartaglia
- Francesca De Razza
- Ewelina Gorzałczyńska
- Marjoleine F Broekema
- Johanna Kick
Institutions
- University of Siena (IT)
- University of Pisa (IT)
- University of Bern (CH)
- Hebron University (PS)
- University Medical Center Groningen (NL)
- Medical University of Białystok (PL)
- Inserm (FR)
- Universität Hamburg (DE)
- Université de Bourgogne (FR)
- Université de Montpellier (FR)
- University of Pavia (IT)
- Oulu University Hospital (FI)
- University Hospital of Bern (CH)
- Istituto Giannina Gaslini (IT)
- Centre Hospitalier Universitaire de Lille (FR)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institute of Pathology and Genetics (BE)
- University Medical Center Hamburg-Eppendorf (DE)
- Siena Biotech (Italy) (IT)
- Presidio Ospedaliero (IT)
- Bambino Gesù Children's Hospital (IT)
- Hôpital Robert-Debré (FR)
- Azienda Ospedaliera Universitaria Senese (IT)
- Laboratoire National de Santé (LU)
- Hôpital Arnaud de Villeneuve (FR)
- Scuola Superiore Meridionale (IT)
- Amsterdam University Medical Centers (NL)
- Telethon Institute Of Genetics And Medicine (IT)
- Ospedale Vito Fazzi (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
- University of Naples Federico II (IT)
- University of Amsterdam (NL)
- RWTH Aachen University (DE)
- Otto-von-Guericke-Universität Magdeburg (DE)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-02-12
- DOI
- https://doi.org/10.1016/j.gim.2025.101375
- Citations
- 3
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Ministero della Salute