{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T10:26:21Z","timestamp":1788344781396,"version":"build-2803163510"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T00:00:00Z","timestamp":1699574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18\/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR\/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with myristic acid alkyne (YnMyr) chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), aged 1\u201350\u2005years, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay\/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity\/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%) and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism\/hypokinesia developing with advancing age (32%) and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia\/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each) as well as hypertrophy of the clava (24%) were common neuroimaging findings. Acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism and midbrain defects accompanied by developmental delay with increased mortality over time. Unlike ACBD5, ACBD6 did not show a peroxisomal localization and ACBD6-deficiency was not associated with altered peroxisomal parameters in patient fibroblasts. Significant differences in YnMyr-labelling were observed for 68 co- and 18 post-translationally N-myristoylated proteins in patient-derived fibroblasts. N-myristoylation was similarly affected in acbd6-deficient zebrafish and X. tropicalis models, including Fus, Marcks and Chchd-related proteins implicated in neurological diseases. The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders.<\/jats:p>","DOI":"10.1093\/brain\/awad380","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T11:36:45Z","timestamp":1699529805000},"page":"1436-1456","source":"Crossref","is-referenced-by-count":21,"title":["Bi-allelic <i>ACBD6<\/i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1640-4010","authenticated-orcid":false,"given":"Rauan","family":"Kaiyrzhanov","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aboulfazl","family":"Rad","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center, Sabzevar University of Medical Sciences , Sabzevar 009851 , Iran"},{"name":"T\u00fcbingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7559-6529","authenticated-orcid":false,"given":"Sheng-Jia","family":"Lin","sequence":"additional","affiliation":[{"name":"Genes & Human Disease Research Program, Oklahoma Medical Research Foundation , Oklahoma City, OK 73104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Bertoli-Avella","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, CENTOGENE GmbH , 18055 Rostock , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter W","family":"Kallemeijn","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Imperial College London, Molecular Sciences Research Hub , London W12 0BZ , UK"},{"name":"Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute , London NW1 1AT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Godwin","sequence":"additional","affiliation":[{"name":"European Xenopus Resource Centre\u2014XenMD, School of Biological Sciences, University of Portsmouth , Portsmouth PO1 2DT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , 12622 Cairo , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Huang","sequence":"additional","affiliation":[{"name":"Genes & Human Disease Research Program, Oklahoma Medical Research Foundation , Oklahoma City, OK 73104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassidy","family":"Petree","sequence":"additional","affiliation":[{"name":"Genes & Human Disease Research Program, Oklahoma Medical Research Foundation , Oklahoma City, OK 73104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Genetics Research Centre, Molecular and Clinical Sciences Institute, St George\u2019s University of London , London SW17 0RE , UK"},{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad 1696700 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf , 20246 Hamburg , Germany"},{"name":"Institute of Human Genetics, University Hospital Heidelberg , Heidelberg 69120 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A","family":"Normand","sequence":"additional","affiliation":[{"name":"Clinical Genomics Program, GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8332-0672","authenticated-orcid":false,"given":"Sabine","family":"Rudnik-Sch\u00f6neborn","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University Innsbruck , Innsbruck 6020 , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich A","family":"Schatz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University Innsbruck , Innsbruck 6020 , Austria"},{"name":"Institute of Human Genetics, Technical University of Munich , Munich, 81675 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc P","family":"Baggelaar","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Imperial College London, Molecular Sciences Research Hub , London W12 0BZ , UK"},{"name":"Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University , 3584 CH Utrecht , The 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Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Mahroum","sequence":"additional","affiliation":[{"name":"CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg , Freiburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawabreh Kassem","family":"Talbeya","sequence":"additional","affiliation":[{"name":"Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center , 31048 Haifa , Israel"},{"name":"Department of Radiology, The Bnai Zion Medical Center , Haifa 31048 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE2 4HH , UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashaya","family":"Zaman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health , Dhaka 1216 , Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina A","family":"Schrader","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Exeter , Exeter EX4 4QD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY 10032 , USA"},{"name":"Department of Medicine, Columbia University Irving Medical Center , New York, NY 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCCS , 50139 Florence , Italy"},{"name":"Neuroscience, Pharmacology and Child Health Department, University of Florence , 50139 Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 , USA"},{"name":"Department of Neurology, Texas Children\u2019s Hospital , Houston, TX 77030 , USA"},{"name":"Human Genome Sequencing Center, Baylor College of Medicine , Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California , San Diego, CA 92093 , USA"},{"name":"Department of Neurosciences, Rady Children's Institute for Genomic Medicine , San Diego, CA 92025 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service, Nottingham University Hospitals NHS Trust , Nottingham NG5 1PB , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0151-6482","authenticated-orcid":false,"given":"Yalda","family":"Jamshidi","sequence":"additional","affiliation":[{"name":"Genetics Research Centre, Molecular and Clinical Sciences Institute, St George\u2019s University of London , London SW17 0RE , UK"},{"name":"Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford , Oxford, OX3 7FZ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6719-3447","authenticated-orcid":false,"given":"Barbara","family":"Vona","sequence":"additional","affiliation":[{"name":"T\u00fcbingen Hearing Research Centre, 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