{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:51:40Z","timestamp":1768567900646,"version":"3.49.0"},"posted":{"date-parts":[[2024,6,24]]},"group-title":"Endocrinology (including Diabetes Mellitus and Metabolic Disease)","reference-count":24,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,6,24]]},"abstract":"<jats:title>Summary<\/jats:title>\n                <jats:p>\n                  We report a novel cause of partial lipodystrophy associated with early B cell factor 2 (\n                  <jats:italic>EBF2<\/jats:italic>\n                  ) nonsense variant (\n                  <jats:italic>EBF2<\/jats:italic>\n                  8:26033143 C&gt;A, c.493G&gt;T, p.E165X) in a patient with an atypical form of partial lipodystrophy. The patient presented with progressive adipose tissue loss and metabolic deterioration at pre-pubertal age.\n                  <jats:italic>In vitro<\/jats:italic>\n                  and\n                  <jats:italic>in vivo<\/jats:italic>\n                  disease modeling demonstrates that the\n                  <jats:italic>EBF2<\/jats:italic>\n                  variant impairs adipogenesis, causing excess accumulation of undifferentiated CD34\n                  <jats:sup>+<\/jats:sup>\n                  cells, extracellular matrix proteins, and inflammatory myeloid cells in subcutaneous adipose tissues. Thus, this\n                  <jats:italic>EBF2<\/jats:italic>\n                  p.E165X variant disrupts adipose tissue structure and function, leading to the development of partial lipodystrophy syndrome.\n                <\/jats:p>","DOI":"10.1101\/2024.06.24.24309093","type":"posted-content","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T19:15:12Z","timestamp":1719256512000},"source":"Crossref","is-referenced-by-count":0,"title":["Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1350-1125","authenticated-orcid":false,"given":"Maria C.","family":"Foss-Freitas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Gilio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Monteiro da Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Pais","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie C.","family":"O\u2019Leary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi L.","family":"Rehm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Neidert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam S.","family":"Udler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Seale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif A.","family":"Oral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-Hwa","family":"Chun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2024062604100833000_2024.06.24.24309093v1.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2466"},{"key":"2024062604100833000_2024.06.24.24309093v1.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2022.07.674"},{"key":"2024062604100833000_2024.06.24.24309093v1.3","doi-asserted-by":"publisher","DOI":"10.1080\/17446651.2020.1735360"},{"key":"2024062604100833000_2024.06.24.24309093v1.4","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14426"},{"key":"2024062604100833000_2024.06.24.24309093v1.5","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01557-06"},{"key":"2024062604100833000_2024.06.24.24309093v1.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2005.10.009"},{"key":"2024062604100833000_2024.06.24.24309093v1.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2013.01.015"},{"key":"2024062604100833000_2024.06.24.24309093v1.8","doi-asserted-by":"publisher","DOI":"10.2337\/db15-0203"},{"key":"2024062604100833000_2024.06.24.24309093v1.9","doi-asserted-by":"publisher","DOI":"10.1101\/gad.348780.121"},{"key":"2024062604100833000_2024.06.24.24309093v1.10","doi-asserted-by":"publisher","DOI":"10.1101\/gad.294405.116"},{"key":"2024062604100833000_2024.06.24.24309093v1.11","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04518-2"},{"key":"2024062604100833000_2024.06.24.24309093v1.12","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-30931-2"},{"key":"2024062604100833000_2024.06.24.24309093v1.13","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-19-0139"},{"key":"2024062604100833000_2024.06.24.24309093v1.14","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.add4897"},{"key":"2024062604100833000_2024.06.24.24309093v1.15","doi-asserted-by":"publisher","DOI":"10.14670\/HH-25.807"},{"key":"2024062604100833000_2024.06.24.24309093v1.16","doi-asserted-by":"publisher","DOI":"10.1002\/stem.2016"},{"key":"2024062604100833000_2024.06.24.24309093v1.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-022-00951-7"},{"key":"2024062604100833000_2024.06.24.24309093v1.18","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.433"},{"key":"2024062604100833000_2024.06.24.24309093v1.19","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2018070699"},{"key":"2024062604100833000_2024.06.24.24309093v1.20","doi-asserted-by":"publisher","DOI":"10.1210\/en.2009-0987"},{"key":"2024062604100833000_2024.06.24.24309093v1.21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.07.034"},{"key":"2024062604100833000_2024.06.24.24309093v1.22","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms4793"},{"key":"2024062604100833000_2024.06.24.24309093v1.23","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10130"},{"key":"2024062604100833000_2024.06.24.24309093v1.24","doi-asserted-by":"publisher","DOI":"10.1677\/joe.1.06103"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/2024.06.24.24309093","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T20:04:09Z","timestamp":1768507449000},"score":1,"resource":{"primary":{"URL":"http:\/\/medrxiv.org\/lookup\/doi\/10.1101\/2024.06.24.24309093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,24]]},"references-count":24,"URL":"https:\/\/doi.org\/10.1101\/2024.06.24.24309093","relation":{},"subject":[],"published":{"date-parts":[[2024,6,24]]},"subtype":"preprint"}}