{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:29:06Z","timestamp":1790501346157,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"5","funder":[{"name":"Children\u2019s Mercy Research Institute"},{"DOI":"10.13039\/100010400","name":"Children\u2019s Mercy Kansas City","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010400","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD001607"],"award-info":[{"award-number":["HD001607"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"The Wellcome Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The MRC"},{"DOI":"10.13039\/100013128","name":"The MSA Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The National Institute for Health Research University College London Hospitals Biomedical Research Centre"},{"DOI":"10.13039\/100000864","name":"The Michael J Fox Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000268","name":"BBSRC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Fidelity Trust"},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sparks GOSH Charity"},{"name":"Alzheimer's Research UK"},{"name":"CureDRPLA"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes for Health Research","doi-asserted-by":"crossref","award":["OGB-177940"],"award-info":[{"award-number":["OGB-177940"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1\u20138. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c.85T&amp;gt;C (p.Ser29Pro) and frameshift c.71-75dupTGGCC (p.Asn26Trpfs*51)] and homozygous variants [missense c.196A&amp;gt;C (p.Thr66Pro) and c.124T&amp;gt;C (p.Ser42Pro)] in BORCS8 in five children with a severe early-infantile neurodegenerative disorder from three unrelated families.<\/jats:p>\n               <jats:p>The children exhibit global developmental delay, severe-to-profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with prevalent supratentorial involvement.<\/jats:p>\n               <jats:p>Cellular studies using a heterologous transfection system show that the BORCS8 missense variants p.Ser29Pro, p.Ser42Pro and p.Thr66Pro are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution toward the cell periphery. The BORCS8 frameshift variant p.Asn26Trpfs*51, on the other hand, is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution toward the cell periphery.<\/jats:p>\n               <jats:p>Therefore, all the BORCS8 variants are partial or total loss-of-function alleles and are thus likely pathogenic. Knockout of the orthologous borcs8 in zebrafish causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.<\/jats:p>\n               <jats:p>These findings thus identify BORCS8 as a novel genetic locus for an early-infantile neurodegenerative disorder and highlight the critical importance of BORC and lysosome dynamics for the development and function of the central nervous system.<\/jats:p>","DOI":"10.1093\/brain\/awad427","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T00:22:53Z","timestamp":1703204573000},"page":"1751-1767","source":"Crossref","is-referenced-by-count":27,"title":["Biallelic <i>BORCS8<\/i> variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8179-6869","authenticated-orcid":false,"given":"Raffaella","family":"De Pace","sequence":"first","affiliation":[{"name":"Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health , Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Paimboeuf","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7005-3787","authenticated-orcid":false,"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz 83151-61355 , Iran"},{"name":"Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory , Ahvaz 61556-89467 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7840-0002","authenticated-orcid":false,"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre , Cairo 12622 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7935-3401","authenticated-orcid":false,"given":"Saeid","family":"Sadeghian","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences , Ahvaz 61357-33184 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5423-6375","authenticated-orcid":false,"given":"Reza","family":"Azizimalamiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences , Ahvaz 61357-33184 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6281-4809","authenticated-orcid":false,"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz 83151-61355 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1715-5928","authenticated-orcid":false,"given":"Jawaher","family":"Zeighami","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory , Ahvaz 61556-89467 , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4886-5102","authenticated-orcid":false,"given":"Chad D","family":"Williamson","sequence":"additional","affiliation":[{"name":"Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health , Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0641-3271","authenticated-orcid":false,"given":"Emily","family":"Fleming","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children\u2019s Mercy Kansas City , Kansas City, MO 64108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5644-2196","authenticated-orcid":false,"given":"Dihong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children\u2019s Mercy Kansas City , Kansas City, MO 64108 , USA"},{"name":"Department of Pediatrics, University of Missouri-Kansas City School of Medicine , Kansas City, MO 64108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-2851","authenticated-orcid":false,"given":"Jennifer L","family":"Gannon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Missouri-Kansas City School of Medicine , Kansas City, MO 64108 , USA"},{"name":"Division of Clinical Genetics, Children\u2019s Mercy Kansas City , Kansas City, MO 64108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Thiffault","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children\u2019s Mercy Kansas City , Kansas City, MO 64108 , USA"},{"name":"Department of Pathology, Children's Mercy Kansas City, Kansas City , MO 64108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-3459","authenticated-orcid":false,"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, INSERM, Institut du Cerveau (ICM), and Assistance Publique-H\u00f4pitaux de Paris, Department of Neurology, H\u00f4pital de la Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9037-701X","authenticated-orcid":false,"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus , Nottingham NG5 1PB , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5567-8300","authenticated-orcid":false,"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9414-4555","authenticated-orcid":false,"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock , 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