{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:37:24Z","timestamp":1790501844289,"version":"4.1.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["12Q5920N"],"award-info":[{"award-number":["12Q5920N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1842318N"],"award-info":[{"award-number":["1842318N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003441","name":"Universitair Ziekenhuis Gent","doi-asserted-by":"publisher","award":["Methusalem grant 08\/01M01108"],"award-info":[{"award-number":["Methusalem grant 08\/01M01108"]}],"id":[{"id":"10.13039\/501100003441","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>TANGO1<\/jats:italic>\n                    (transport and Golgi organization\u20101 homolog) encodes a transmembrane protein, which is located at endoplasmic reticulum (ER) exit sites where it binds bulky cargo, such as collagens, in the lumen and recruits membranes from the ER\u2010Golgi intermediate compartment (ERGIC) to create an export route for cargo secretion. Mice lacking\n                    <jats:italic>Mia3<\/jats:italic>\n                    (murine TANGO1 orthologue) show defective secretion of numerous procollagens and lead to neonatal lethality due to insufficient bone mineralization. Recently, aberrant expression of truncated TANGO1 in humans has been shown to cause a mild\u2010to\u2010moderate severe collagenopathy associated with dentinogenesis imperfecta, short stature, skeletal abnormalities, diabetes mellitus, and mild intellectual disability. We now show for the first time that complete loss of TANGO1 results in human embryonic lethality with near\u2010total bone loss and phenocopies the situation of\n                    <jats:italic>Mia3<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice. Whole\u2010exome sequencing on genomic DNA (gDNA) of an aborted fetus of Indian descent revealed a homozygous 4\u2010base pair (4\u2010bp) deletion in\n                    <jats:italic>TANGO1<\/jats:italic>\n                    that is heterozygously present in both healthy parents. Parental fibroblast studies showed decreased TANGO1 mRNA expression and protein levels. Type I collagen secretion and extracellular matrix organization were normal, supporting a threshold model for clinical phenotype development. As such, our report broadens the phenotypic and mutational spectrum of\n                    <jats:italic>TANGO1<\/jats:italic>\n                    \u2010related collagenopathies, and underscores the crucial role of TANGO1 for normal bone development, of which deficiency results in a severe\u2010to\u2010lethal form of osteochondrodysplasia. \u00a9 2021 American Society for Bone and Mineral Research \u00a9 2020 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10451","type":"journal-article","created":{"date-parts":[[2020,12,15]],"date-time":"2020-12-15T05:56:51Z","timestamp":1608011811000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Loss of\n                    <scp>TANGO1<\/scp>\n                    Leads to Absence of Bone Mineralization"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7194-6651","authenticated-orcid":false,"given":"Brecht","family":"Guillemyn","sequence":"first","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences &amp; Research Centre  Cochin India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delfien","family":"Syx","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Department of 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