Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies."

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Publication Details

Journal
Genetics in Medicine
Published
2024-09-17
DOI
https://doi.org/10.1016/j.gim.2024.101251
Citations
1
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.55

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article

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Jennifer E. Posey, Heba Morsy, Sureni V. Mullegama, Roseline Caumes et al.
1 citations
Genetics in Medicine
Genomic variations and chromosomal abnormalities
0.55
article

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Jennifer E. Posey, Heba Morsy, Sureni V. Mullegama, Roseline Caumes, Pınar Gençpınar, Nikolaos M. Marinakis, Emanuele Agolini, Juliana Alves Josahkian, Zahra Firoozfar, Donatella Lettori, Denis L. J. Lafontaine, Gessica Vasco, Firas Alqarajeh, Antonio Novelli, Lukáš Ryba, Chee Geap Tay, Laurent Villard, Hane Lee, Özlem Sezer, Lucinda Carr, Frédéric Tran Mau‐Them, Joseph G. Gleeson, Maha Saad Zaki, E Morán, Wendy K. Chung, Elisa Calì, Isabelle Thiffault, Davut Pehli̇van, Mohnish Suri, Dana Marafi, Stéphanie Efthymiou, Nicolas Chatron, Nebal Waill Saadi, Jeffrey L. Neul, Mahmoud Y. Issa, John Pappas, Ingrid Cristian, Maedeh Neshatdoust, Nuzhat Rana, Shahnaz Ibrahim, V. Yu. Voinova, Susan Hosseini, Feyzollah Hashemi‐Gorji, Lisenka E.L.M. Vissers, Grace Noh, Pegah Larki, Huma Arshad Cheema, Clarissa Rocca, Amber Begtrup, David Murphy, Christine Coubes, Isabella Herman, Hasnaa M. Elbendary, Osama Atawneh, Shimriet Zeidler, Farah Kanani, Joanne Traeger‐Synodinos, Mansoor Salehi, Gaëtan Lesca, Antonella Riva, Olga Levchenko, Alistair T. Pagnamenta, Tamar Harel, Sanjukta Tawde, Omar Askander, Ange‐Line Bruel, Varunvenkat M. Srinivasan, Fernando Kok, Tania Quirin, Roberto Domínguez, Moien Kanaan, Nicole Bertsch, Jennifer Hague, Marwa Abd Elmaksoud, Giovanni Zifarelli, Vincent Strehlow, Adélia Maria de Miranda Henriques‐Souza, Viveka Santhosh Reddy Challa, Pavel Tesner, Prem Chand, Elsayed Abdelkreem, Rami Abou Jamra, Lara Kamal, David J. Amor, Fabíola Paoli Monteiro, Andrés Moreno-De-Luca, Mohamed S. Abdel‐Hamid, Henry Houlden, Pasquale Striano, Fowzan Sami Alkuraya, Shahryar Alavi, Bülent Ünay, Peter Bauer, Hagar Mor‐Shaked, Jennifer Morrison, Tadahiro Mitani, Mathieu Milh, Lúciana Mota Bispo, Elmostafa El Fahime, Iram Javed, Sara Halbach, Sara Idkaidak, Henry Opperman, Mohammad Reza Abbaszadegan, Philippe M. Campeau, Vykuntaraju K. Gowda, Mathilde Nizon, Milan Macek, Fiona Beecroft, Eshan Karimiani Ghayoor, Canan Ustun, Jennifer Stefanich, Hebatallah El Khassab, Ali Nejad-Rashidi, Christin Canavati, Elias Rayana Maia, Jain Vivek, Lucas Alves Victor, Benito Pinero-Banos, Heba Ahmed Ei-Awady, Muhammad Nadeem Anjum, João Paulo Kitajima, Faisal Zafar, Mostafa Zohour Montazer, Reza Maroofian, Mohammad Miryounesi, James R. Lupski, Shahzhad Haider, Dorothe Ville
article en
1 citations

Abstract

This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies."

Genetics in MedicineVol. 27(4)
Université Claude Bernard Lyon 1 (FR), Isfahan University of Medical Sciences (IR), Hebron University (PS), National Health Service (GB), Indiana University Health (US), Boston Children's Hospital (US), Centre National de la Recherche Scientifique (FR), Children’s Institute (US), Université Libre de Bruxelles (BE), Royal Children's Hospital (AU), Children's Mercy Hospital (US), Nottingham University Hospitals NHS Trust (GB), Riyadh Armed Forces Hospital (SA), Centre for Human Genetics (GB), University of Baghdad (IQ), Harvard University (US), Radboud University Nijmegen (NL), Orlando Health (US), Inserm (FR), Mashhad University of Medical Sciences (IR), Queen Mary University of London (GB), Universidade Federal da Paraíba (BR), Fund for Scientific Research (BE), Université de Bourgogne (FR), Lyon College (US), Baylor College of Medicine (US), Islamic Azad University, Mashhad (IR), University of Wah (PK), Hebrew University of Jerusalem (IL), National and Kapodistrian University of Athens (GR), Queen's University (CA), Al-Quds University (PS), Charles University (CZ), Aix-Marseille Université (FR), Izmir Kâtip Çelebi University (TR), Hadassah Medical Center (IL), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), Palestinian Hydrology Group (PS), Arnold Palmer Hospital for Children (US), King Faisal Specialist Hospital & Research Centre (SA), Istituto Giannina Gaslini (IT), Erasmus MC (NL), Centre Hospitalier Universitaire Sainte-Justine (CA), Northampton General Hospital (GB), Aga Khan University Hospital (PK), Radboud University Medical Center (NL), University of Health Sciences Lahore (PK), Centre Hospitalier Universitaire de Lille (FR), Pirogov Russian National Research Medical University (RU), Kuwait University (KW), Palestine Polytechnic University (PS), University of Isfahan (IR), University of Chicago (US), Universidade Federal de Campina Grande (BR), Nemours Children’s Clinic (US), Assistance Publique Hôpitaux de Marseille (FR), Seoul Medical Center (KR), National Human Genome Research Institute (US), Gülhane Askerî Tıp Akademisi (TR), Akron Children's Hospital (US), Birmingham Women's Hospital (GB), Center for Children (US), Hospices Civils de Lyon (FR), Mohamed I University (MA), Instituto de Medicina Integral Professor Fernando Figueira (BR), Laboratoire National de Référence (MA), Samsun University (TR), CHU Dijon Bourgogne (FR), Dalton School (US), Université Mohammed VI des Sciences et de la Santé (MA), Sheffield Children's NHS Foundation Trust (GB), Kaiser Permanente Fontana Medical Center (US), Bambino Gesù Children's Hospital (IT), Institut NeuroMyoGène (FR), Research Centre for Medical Genetics (RU), Sağlık Bilimleri Üniversitesi (TR), National Research Fund Luxembourg (LU), Université Mohammed VI Polytechnique (MA), National Research Centre (EG), Zahedan University of Medical Sciences (IR), Institute of Child Health (IN), Centogene (Germany) (DE), Mendelics (BR), Institut du Thorax (FR), Oxford BioMedica (United Kingdom) (GB), Oxford University Hospitals NHS Trust (GB), National Hospital for Neurology and Neurosurgery (GB), Sexual Health Clinic (FI), Birmingham Women’s and Children’s NHS Foundation Trust (GB), National University of Medical Sciences (PK), Kingston Health Sciences Centre (CA), Indira Gandhi Institute of Child Health (IN), Baylor Genetics (US), Hôpital de la Timone (FR), The Queen's Medical Research Institute (GB), Genomic (Brazil) (BR), University College London (GB), New York University (US), Shahid Beheshti University of Medical Sciences (IR), Fayoum University (EG), Tehran University of Medical Sciences (IR), Université de Montréal (CA), University of Pennsylvania (US), University of Genoa (IT), Sunway University (MY), Alexandria University (EG), University of Health Sciences Antigua (AG), Vanderbilt University Medical Center (US), Erasmus University Rotterdam (NL), Leipzig University (DE), Sohag University (EG)
Michael J. Fox Foundation for Parkinson's Research, International Rett Syndrome Foundation, Friedreich's Ataxia Research Alliance, Muscular Dystrophy Association, Fidelity Foundation, Vanderbilt University, University of Pennsylvania, University of Missouri, University of Chicago, Univerzita Karlova v Praze, National Research Centre, University of Baghdad, Uehara Memorial Foundation, Wellcome Trust, Children's Mercy Hospital, Hadassah Medical Organization, Children’s Hospital of Wisconsin Research Institute, Nottingham University Hospitals NHS Trust, Vanderbilt University Medical Center, Parkinson's Foundation, Murdoch Children's Research Institute, Multiple System Atrophy Coalition, Ospedale Pediatrico Bambino Gesù, York University, National Institute for Health and Care Research, Parkinson's UK, Guarantors of Brain, University College London, University of Oxford, Rosetrees Trust, University of Nottingham, Institut National de la Santé et de la Recherche Médicale, Radboud Universiteit, King Faisal Specialist Hospital and Research Centre, Islamic Azad University, Fonds De La Recherche Scientifique - FNRS, Queen's University, Hebrew University of Jerusalem, Great Ormond Street Hospital for Children, Isfahan University of Medical Sciences, Kuwait University, Tehran University of Medical Sciences and Health Services, Università degli Studi di Genova, Mashhad University of Medical Sciences, Centre National de la Recherche Scientifique, Zahedan University of Medical Sciences, National and Kapodistrian University of Athens, Shahid Beheshti University of Medical Sciences, Oxford University Hospitals NHS Foundation Trust, Radboud Universitair Medisch Centrum, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, University of Isfahan, Centre Hospitalier Universitaire de Nantes, Alexandria University, Fakultet Medicinskih Nauka, Univerziteta U Kragujevcu, Centre de recherche du CHU Sainte-Justine, Pirogov Russian National Research Medical University, Cerebral Palsy Alliance, National Institutes of Health, University of California, San Diego, Perelman School of Medicine, University of Pennsylvania, NYU Grossman School of Medicine, University of Chicago Medicine, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, School of Medicine, University of Missouri, Medical Research Council, St. George's, University of London, Faculty of Health Sciences, Queen's University, NIHR Sheffield Biomedical Research Centre, National Human Genome Research Institute, FP7 Ideas: European Research Council
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Genomic variations and chromosomal abnormalities
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