{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:14:15Z","timestamp":1790007255629,"version":"4.0.1"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T00:00:00Z","timestamp":1740355200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["10-LABX-46"],"award-info":[{"award-number":["10-LABX-46"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017228","name":"European Genomics Institute for Diabetes","doi-asserted-by":"publisher","award":["ANR-10-EQPX-07-01"],"award-info":[{"award-number":["ANR-10-EQPX-07-01"]}],"id":[{"id":"10.13039\/100017228","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Lille Integrated Genomics Advanced Network for personalized medicine"},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["OpiO 101043671"],"award-info":[{"award-number":["OpiO 101043671"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon Europe Research and Innovation Programme"},{"name":"OBELISK","award":["101080465"],"award-info":[{"award-number":["101080465"]}]},{"name":"National Center for Precision Diabetic Medicine"},{"name":"PreciDIAB"},{"DOI":"10.13039\/501100001665","name":"French National Agency for Research","doi-asserted-by":"publisher","award":["ANR-18-IBHU-0001"],"award-info":[{"award-number":["ANR-18-IBHU-0001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014161","name":"Hauts-de-France Regional Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014161","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Metropolis of Lille","award":["ANR-10-INBS-009"],"award-info":[{"award-number":["ANR-10-INBS-009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The global increase in the prevalence of metabolic syndrome represents a significant public health concern. Rare biallelic pathogenic variants in ZMPSTE24 have been identified as the cause of mandibuloacral dysplasia type B, ie, a lipodystrophy syndrome associated with metabolic complications. The role of monoallelic pathogenic variants in ZMPSTE24 concerning metabolic syndrome remains uncertain.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Case report and systematic review of literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We investigated a Wallisian family with FPLD and metabolic syndrome via whole-exome sequencing. We performed functional analyses of an identified rare ZMPSTE24 variant. To broadly assess the effect of heterozygous pathogenic ZMPSTE24 variants on FPLD-associated phenotypes, and metabolic syndrome, we used the Human Gene Mutation Database (HGMD) and 200\u2005K exome data from UK Biobank.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We investigated a Wallisian family where a 40-year-old female with metabolic syndrome was found to carry a rare heterozygous missense variant in ZMPSTE24. Functional assays showed a decreased prelamin to lamin A maturation and accelerated senescence. In silico analysis demonstrated that this variant might disrupt the lamin A binding site. We then analyzed the impact of monoallelic pathogenic ZMPSTE24 variants on metabolic traits using data from the HGMD and the UK Biobank. In HGMD, ZMPSTE24 variants carriers presented with dyslipidemia and hepatic steatosis. In the UK Biobank, monoallelic pathogenic variants were associated with an increased risk of hypertriglyceridemia, with a trend toward metabolic syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study underscores the association of ZMPSTE24 rare variants with metabolic disorders and emphasizes the need for further research to clarify their clinical implications.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf031","type":"journal-article","created":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T19:51:46Z","timestamp":1740426706000},"page":"240-247","source":"Crossref","is-referenced-by-count":1,"title":["Rare <i>ZMPSTE24<\/i> variants increase risk of hypertriglyceridemia and metabolic 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,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Lukas Croisier","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Diabetology, University Hospital Center of Reims , 51092 Reims ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunot","family":"Creugnet","sequence":"additional","affiliation":[{"name":"Diabetology Private Practice , 98800 Noum\u00e9a ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Dechaume","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Toussaint","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Vaillant","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souhila","family":"Amanzougarene","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Buse Falay","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Derhourhi","sequence":"additional","affiliation":[{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID , 59045 Lille ,","place":["France"]},{"name":"University of Lille, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Lourdelle","sequence":"additional","affiliation":[{"name":"Pediatric diabetology Department, American Memorial Hospital, University hospital , 51092 Reims 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