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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
E. Cali, T. Quirin, C. Rocca, S. Efthymiou, A. Riva, D. Marafi, MS. Zaki, M. Suri, R. Dominguez, HM. Elbendary, S. Alavi, MS. Abdel-Hamid, H. Morsy, FT. Mau-Them, M. Nizon, P. Tesner, L. Ryba, F. Zafar, N. Rana, NW. Saadi, Z. Firoozfar, P....
Language English
Document type Journal Article
Grant support
R01 GM073791
NIGMS NIH HHS - United States
T32 GM007526
NIGMS NIH HHS - United States
R35 NS105078
NINDS NIH HHS - United States
K08 HG008986
NHGRI NIH HHS - United States
Wellcome Trust - United Kingdom
U01 HG011758
NHGRI NIH HHS - United States
- MeSH
- Child MeSH
- Genes, Dominant MeSH
- Phenotype MeSH
- Genes, Recessive MeSH
- Nuclear Proteins * genetics MeSH
- Infant MeSH
- Humans MeSH
- Intellectual Disability genetics pathology MeSH
- Adolescent MeSH
- Brain pathology MeSH
- Mutation MeSH
- Brain Diseases * genetics pathology MeSH
- Neurodevelopmental Disorders * genetics MeSH
- Child, Preschool MeSH
- Developmental Disabilities * genetics pathology MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. METHODS: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing. CONCLUSION: 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."
Aix Marseille Univ APHM department of Pediatrics Neurology Timone children Hospital Marseille France
Al Quds University Jerusalem Palestine
Cellular Molecular and Genetics Research Center Isfahan University of Medical Sciences Isfahan Iran
Centre Mohamed 6 for Research and Innovation Benguerir Morocco
CHU Sainte Justine Research Center Montreal QC Canada
Clinical Genetic Services Department of Pediatrics NYU Grossman School of Medicine New York NY
Clinical Genetics Center for Children Hassenfeld Children's Hospital New York University New York NY
Clinical Genetics NYU Orthopedic Hospital New York NY
Clinical Genetics service Northampton General Hospital Northampton United Kingdom
Clinical Research Centre Sunway Medical Centre Malaysia
Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands
Department of Genetics Southern California Permanente Medical Group Fontana CA
Department of Human Genetics Radboudumc University Medical Center Nijmegen The Netherlands
Department of Human Genetics The University of Chicago Illinois
Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran
Department of Medical Genetics Samsun University Faculty of Medicine Samsun Turkey
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX
Department of Neuropediatric University Hospital of Lyon Lyon France
Department of Neurosciences University of California San Diego La Jolla CA
Department of Paediatric and Child Health Aga Khan University Hospital Karachi Pakistan
Department of Paediatric Neurology Children's Hospital and Institute of Child Health Multan Pakistan
Department of Paediatrics and Genetics Universidade Federal de Paraiba Joao Pessoa Paraiba Brazil
Department of Pathology and Laboratory Medicine Children's Mercy Hospital Kansas City MO
Department of Pediatric Neurology Indira Gandhi Institute of Child Health Bengaluru India
Department of Pediatric Neurology Neo Clinic Children's Hospital Jaipur India
Department of Pediatrics Baylor College of Medicine Houston TX
Department of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA
Department of Pediatrics Faculty of Medicine Kuwait University Safat Kuwait
Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt
Department of Pediatrics Faculty of Medicine Université de Montréal Montreal QC Canada
Department of Pediatrics Fayoum University Hospitals Fayoum Egypt
Department of Pediatrics Vanderbilt Kennedy Center Vanderbilt University Medical Center Nashville TN
Department of Physiology Perelman School of Medicine University of Pennsylvania Philadelphia PA
Division of Genetics Arnold Palmer Hospital for Children Orlando Health Orlando FL
Division of Medical Genetics 3billion Inc Seoul South Korea
Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen The Netherlands
Faculty of Medical Sciences Mohammed 6 Polytechnic University of Benguerir Ben Guerir Morocco
Genetic Center Akron Children's Hospital Akron OH
Genetics Ward Yas Hospital Complex Tehran University of Medical Sciences Tehran Iran
Genomic Medicine Center Children's Mercy Hospital Kansas City MO
Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran
Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom
Hospices Civils de Lyon Service de Génétique Bron France
Human Genetics Department Medical Research Institute Alexandria University Egypt
Human Genome Sequencing Center Baylor College of Medicine Houston TX
Innovative Medical Research Center Mashhad Branch Islamic Azad University Mashhad Iran
INSERM UMR1231 GAD Dijon France
INSERM Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement Dijon France
Institut du thorax INSERM CNRS UNIV Nantes Nantes France
Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany
Kansas City School of Medicine University of Missouri Kansas City MO
Laboratório Mendelics Department of Genetic São Paulo Brazil
Medical Genetics Research Center of Genome Isfahan University of Medical Sciences Isfahan Iran
Mendelics Genomic Analysis São Paulo Brazil
Mental Health Research Center Moscow Russia
Molecular Genetics Laboratory Istishari Arab Hospital Ramallah Palestine
Neurology Unit Department of Pediatrics Faculty of Medicine Alexandria University Egypt
NIHR Biomedical Research Centre Centre for Human Genetics University of Oxford Oxford United Kingdom
Oxford Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Oxford United Kingdom
Paediatrics Wah Medical College NUMS Wah Cantonment Punjab Pakistan
Pardis Pathobiology and Genetics Laboratory Mashhad Iran
Pathophysiology and Genetics of Neuron and Muscle Université Claude Bernard Lyon 1 Lyon France
Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genova Italy
PRCS hospital Hebron Palestine
Rady Children's Institute for Genomic Medicine San Diego CA
Research Centre for Medical Genetics Moscow Russia
RNA Molecular Biology Fonds de la Recherche Scientifique Biopark campus Gosselies Belgium
Service de Génétique Clinique CHU Lille Lille France
Service de génétique médicale CHU de Nantes Nantes France
Sulaiman Al Habib Hospital Olaya Medical Complex Riyadh Saudi Arabia
The Community Health Clinic Shipshewana IN
University of Chicago Medicine University of Chicago Chicago IL
West Midlands Clinical Genetics Service Birmingham Women's Hospital Birmingham United Kingdom
References provided by Crossref.org
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- $a Cali, Elisa $u Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom
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- $a Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders / $c E. Cali, T. Quirin, C. Rocca, S. Efthymiou, A. Riva, D. Marafi, MS. Zaki, M. Suri, R. Dominguez, HM. Elbendary, S. Alavi, MS. Abdel-Hamid, H. Morsy, FT. Mau-Them, M. Nizon, P. Tesner, L. Ryba, F. Zafar, N. Rana, NW. Saadi, Z. Firoozfar, P. Gencpinar, B. Unay, C. Ustun, AL. Bruel, C. Coubes, J. Stefanich, O. Sezer, E. Agolini, A. Novelli, G. Vasco, D. Lettori, M. Milh, L. Villard, S. Zeidler, H. Opperman, V. Strehlow, MY. Issa, H. El Khassab, P. Chand, S. Ibrahim, A. Rashidi-Nezhad, M. Miryounesi, P. Larki, J. Morrison, I. Cristian, I. Thiffault, NL. Bertsch, GJ. Noh, J. Pappas, E. Moran, NM. Marinakis, J. Traeger-Synodinos, S. Hosseini, MR. Abbaszadegan, R. Caumes, LELM. Vissers, M. Neshatdoust, M. Montazer Zohour, E. El Fahime, C. Canavati, L. Kamal, M. Kanaan, O. Askander, V. Voinova, O. Levchenko, S. Haider, SS. Halbach, R. Elias Maia, S. Mansoor, V. Jain, S. Tawde, VSR. Challa, VK. Gowda, VM. Srinivasan, LA. Victor, B. Pinero-Banos, J. Hague, HA. ElAwady, A. Maria de Miranda Henriques-Souza, HA. Cheema, MN. Anjum, S. Idkaidak, F. Alqarajeh, O. Atawneh, H. Mor-Shaked, T. Harel, G. Zifarelli, P. Bauer, F. Kok, JP. Kitajima, F. Monteiro, J. Josahkian, G. Lesca, N. Chatron, D. Ville, D. Murphy, JL. Neul, SV. Mullegama, A. Begtrup, I. Herman, T. Mitani, JE. Posey, CG. Tay, I. Javed, L. Carr, F. Kanani, F. Beecroft, L. Hane, E. Abdelkreem, M. Macek, L. Bispo, MA. Elmaksoud, F. Hashemi-Gorji, D. Pehlivan, DJ. Amor, RA. Jamra, WK. Chung, E. Ghayoor Karimiani, PM. Campeau, FS. Alkuraya, AT. Pagnamenta, JG. Gleeson, JR. Lupski, P. Striano, A. Moreno-De-Luca, DLJ. Lafontaine, H. Houlden, R. Maroofian
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- $a PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. METHODS: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing. CONCLUSION: 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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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Coubes, Christine $u Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France
- 700 1_
- $a Stefanich, Jennifer $u Genetic Center, Akron Children's Hospital, Akron, OH
- 700 1_
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- $a Bertsch, Nicole L $u The Community Health Clinic, Shipshewana, IN
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Abdelkreem, Elsayed $u Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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