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They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding genes underlie several human diseases characterized by an extremely variable clinical phenotype, ranging from isolated neurodevelopmental\/neurodegenerative disorders to syndromic phenotypes belonging to a family of conditions collectively termed as \u2018ciliopathies.\u2019 Among kinesins, kinesin-1 is the most abundant MT motor for transport of cargoes towards the plus end of MTs. Three kinesin-1 heavy chain isoforms exist in mammals. Different from KIF5A and KIF5C, which are specifically expressed in neurons and established to cause neurological diseases when mutated, KIF5B is an ubiquitous protein. Three de novo missense KIF5B variants were recently described in four subjects with a syndromic skeletal disorder characterized by kyphomelic dysplasia, hypotonia and DD\/ID. Here, we report three dominantly acting KIF5B variants (p.Asn255del, p.Leu498Pro and p.Leu537Pro) resulting in a clinically wide phenotypic spectrum, ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterized by severe hypotonia with or without seizures. In vitro and in vivo analyses provide evidence that the identified disease-associated KIF5B variants disrupt lysosomal, autophagosome and mitochondrial organization, and impact cilium biogenesis. All variants, and one of the previously reported missense changes, were shown to affect multiple developmental processes in zebrafish. These findings document pleiotropic consequences of aberrant KIF5B function on development and cell homeostasis, and expand the phenotypic spectrum resulting from altered kinesin-mediated processes.<\/jats:p>","DOI":"10.1093\/hmg\/ddac213","type":"journal-article","created":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T21:54:59Z","timestamp":1661378099000},"page":"473-488","source":"Crossref","is-referenced-by-count":16,"title":["Dominantly acting\n                    <i>KIF5B<\/i>\n                    variants with pleiotropic cellular consequences cause variable clinical phenotypes"],"prefix":"10.1093","volume":"32","author":[{"given":"Elisabetta","family":"Flex","sequence":"first","affiliation":[{"name":"Department of Oncology and Molecular Medicine, Istituto Superiore di Sanit\u00e0 , 00161 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahad","family":"Albadri","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision , 17 Rue Moreau, F-75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Cecchetti","sequence":"additional","affiliation":[{"name":"Core Facilities, Istituto Superiore di Sanit\u00e0 , 00161 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Lauri","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Priolo","sequence":"additional","affiliation":[{"name":"UOSD Genetica Medica, Grande Ospedale Metropolitano \"Bianchi Melacrino Morelli\" , 89124 Reggio Calabria , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Kissopoulos","sequence":"additional","affiliation":[{"name":"Department of Oncology and Molecular Medicine, Istituto Superiore di Sanit\u00e0 , 00161 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Carpentieri","sequence":"additional","affiliation":[{"name":"Department of Oncology and Molecular Medicine, Istituto Superiore di Sanit\u00e0 , 00161 Rome , Italy"},{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Fasano","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Venditti","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Magliocca","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L","family":"Welch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , NY, New York 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo C","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Columbia University Irving Medical Center , NY, New York 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie M","family":"Kochav","sequence":"additional","affiliation":[{"name":"Department of Medicine, Columbia University Irving Medical Center , NY, New York 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Chang","sequence":"additional","affiliation":[{"name":"Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC) , CA, Orange 92868 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebekah","family":"Barrick","sequence":"additional","affiliation":[{"name":"Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC) , CA, Orange 92868 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Trivisano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Micalizzi","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Borghi","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Oncology and Molecular Medicine, Istituto Superiore di Sanit\u00e0 , 00161 Rome , Italy"},{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Mancini","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Pizzi","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"De Santis","sequence":"additional","affiliation":[{"name":"Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3935-6971","authenticated-orcid":false,"given":"Marion","family":"Rosello","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision , 17 Rue Moreau, F-75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Compagnucci","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , NY, New York 10032 , USA"},{"name":"Department of Medicine, Columbia University Irving Medical Center , NY, New York 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8551-2846","authenticated-orcid":false,"given":"Filippo","family":"Del Bene","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision , 17 Rue Moreau, F-75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-9672","authenticated-orcid":false,"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,26]]},"reference":[{"key":"2023011922201650500_ref1","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1038\/nrm2774","article-title":"Kinesin superfamily motor proteins and intracellular transport","volume":"10","author":"Hirokawa","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023011922201650500_ref2","first-page":"1089","article-title":"Intracellular transport and kinesin superfamily proteins, KIFs: structure, function, and dynamics","volume":"88","author":"Hirokawa","year":"2008","journal-title":"Physiol."},{"key":"2023011922201650500_ref3","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1146\/annurev-biophys-042910-155310","article-title":"Kinesin assembly and movement in cells","volume":"40","author":"Verhey","year":"2011","journal-title":"Annu. Rev. Biophys."},{"key":"2023011922201650500_ref4","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ydbio.2020.09.009","article-title":"The developmental biology of kinesins","volume":"469","author":"Konjikusic","year":"2021","journal-title":"Dev. Biol."},{"key":"2023011922201650500_ref5","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023011922201650500_ref6","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1056\/NEJMra1010172","article-title":"Ciliopathies","volume":"364","author":"Hildebrandt","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"2023011922201650500_ref7","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1136\/jmedgenet-2019-106769","article-title":"'Kinesinopathies': emerging role of the kinesin family member genes in birth defects","volume":"57","author":"Kalantari","year":"2020","journal-title":"J. Med. Genet."},{"key":"2023011922201650500_ref8","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.neuron.2010.09.039","article-title":"Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease","volume":"68","author":"Hirokawa","year":"2010","journal-title":"Neuron"},{"key":"2023011922201650500_ref9","doi-asserted-by":"crossref","first-page":"7004","DOI":"10.1073\/pnas.111145398","article-title":"All kinesin superfamily protein, KIF, genes in mouse and human","volume":"98","author":"Miki","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023011922201650500_ref10","doi-asserted-by":"crossref","first-page":"6374","DOI":"10.1523\/JNEUROSCI.20-17-06374.2000","article-title":"KIF5C, a novel neuronal kinesin enriched in motor neurons","volume":"20","author":"Kanai","year":"2000","journal-title":"J. Neurosci."},{"key":"2023011922201650500_ref11","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.gep.2013.05.002","article-title":"Temporal and tissue specific gene expression patterns of the zebrafish kinesin-1 heavy chain family, kif5s, during development","volume":"13","author":"Campbell","year":"2013","journal-title":"Gene Expr. Patterns"},{"key":"2023011922201650500_ref12","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1083\/jcb.200301026","article-title":"Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A","volume":"161","author":"Xia","year":"2003","journal-title":"J. Cell Biol."},{"key":"2023011922201650500_ref13","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/S0092-8674(00)81459-2","article-title":"Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria","volume":"93","author":"Tanaka","year":"1998","journal-title":"Cell"},{"key":"2023011922201650500_ref14","article-title":"Specific depletion of the motor protein KIF5B leads to deficits in dendritic transport, synaptic plasticity and memory","volume":"21","author":"Zhao","year":"2020","journal-title":"elife"},{"key":"2023011922201650500_ref15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-018-21329-6","article-title":"Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B","volume":"8","author":"Novas","year":"2018","journal-title":"Sci. Rep."},{"key":"2023011922201650500_ref16","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1083\/jcb.131.4.1039","article-title":"Point mutation of adenosine triphosphate-binding motif generated rigor kinesin that selectively blocks anterograde lysosome membrane transport","volume":"131","author":"Nakata","year":"1995","journal-title":"J. Cell Biol."},{"key":"2023011922201650500_ref17","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13008-016-0015-4","article-title":"Mitochondria-cytoskeleton associations in mammalian cytokinesis","volume":"11","author":"Lawrence","year":"2016","journal-title":"Cell Div"},{"key":"2023011922201650500_ref18","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0004424","article-title":"Depletion of kinesin 5B affects lysosomal distribution and stability and induces peri-nuclear accumulation of autophagosomes in cancer cells","volume":"4","author":"Cardoso","year":"2009","journal-title":"PLoS One"},{"key":"2023011922201650500_ref19","article-title":"Kinesin-1 promotes chondrocyte maintenance during skeletal morphogenesis","volume":"13","author":"Santos-Ledo","year":"2017","journal-title":"PLoS Genet."},{"key":"2023011922201650500_ref20","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1364\/BOE.8.001771","article-title":"Biomed","volume":"8","author":"He","year":"2017","journal-title":"Opt. 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Genet."},{"key":"2023011922201650500_ref24","doi-asserted-by":"crossref","first-page":"3127","DOI":"10.1002\/ajmg.a.38496","article-title":"Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development","volume":"173","author":"Michels","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"2023011922201650500_ref25","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.ajhg.2019.07.007","article-title":"Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging","volume":"105","author":"Flex","year":"2019","journal-title":"Am. J. Hum. 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Genet."},{"key":"2023011922201650500_ref28","doi-asserted-by":"crossref","first-page":"11.10.1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"2023011922201650500_ref29","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. 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