{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:23:18Z","timestamp":1790688198424,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:sec>\n<jats:title>Aims<\/jats:title>\n<jats:p><jats:italic>LMNA<\/jats:italic>-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the disease phenotype in a cohort of patients carrying an <jats:italic>LMNA<\/jats:italic> founder variant.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>We collected clinical and biological data from patients carrying the monoallelic or biallelic <jats:italic>LMNA<\/jats:italic> p.(Thr655Asnfs*49) variant (<jats:italic>n<\/jats:italic>\u2009= \u200965 and 13, respectively) and 19 non-affected relative controls followed-up in Reunion Island Lipodystrophy Competence Centre, France.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Two-thirds of patients with FPLD2 (<jats:italic>n<\/jats:italic>\u2009=\u200951) and one-third of controls (<jats:italic>n<\/jats:italic>\u2009=\u20096) displayed lipodystrophy and\/or lean or android morphotype (<jats:italic>P<\/jats:italic>\u2009\u2009=\u20090.02). Although age and BMI were not statistically different between the two groups, the insulin resistance index (median HOMA-IR: 3.7 vs 1.5, <jats:italic>P<\/jats:italic>\u2009\u2009=\u20090.001), and the prevalence of diabetes, dyslipidaemia, and non-alcoholic fatty liver disease were much higher in patients with FPLD2 (51.3 vs 15.8%, 83.3 vs 42.1%, and 83.1 vs 33.3% (all <jats:italic>P<\/jats:italic> \u2264 0.01), respectively). Atherosclerosis tended to be more frequent in patients with FPLD2 (<jats:italic>P<\/jats:italic>\u2009\u2009=\u20090.07). Compared to heterozygous, homozygous patients displayed more severe lipoatrophy and metabolic alterations (lower BMI, fat mass, leptin and adiponectin, and higher triglycerides <jats:italic>P<\/jats:italic> \u2264 0.03) and tended to develop diabetes more frequently, and earlier (<jats:italic>P<\/jats:italic>\u2009\u2009=\u20090.09). Dilated cardiomyopathy and\/or rhythm\/conduction disturbances were the hallmark of the disease in homozygous patients, leading to death in four cases.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The level of expression of the <jats:italic>LMNA<\/jats:italic> \u2018Reunionese\u2019 variant determines the severity of both lipoatrophy and metabolic complications. It also modulates the cardiac phenotype, from atherosclerosis to severe cardiomyopathy, highlighting the need for careful cardiac follow-up in affected patients.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-21-0282","type":"journal-article","created":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T14:53:45Z","timestamp":1626965625000},"page":"453-462","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":23,"title":["A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies"],"prefix":"10.1093","volume":"185","author":[{"given":"Guillaume","family":"Treiber","sequence":"first","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"},{"name":"2University of La R\u00e9union, INSERM, UMR 1188 Diab\u00e8te Ath\u00e9rothrombose Th\u00e9rapies R\u00e9union Oc\u00e9an Indien (D\u00e9TROI), Plateforme CYROI, Saint-Denis de La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6922-4702","authenticated-orcid":true,"given":"Ania","family":"Flaus Furmaniuk","sequence":"additional","affiliation":[{"name":"3Department of Endocrinology, Diabetes and Nutrition, Felix-Guyon, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Denis, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Guilleux","sequence":"additional","affiliation":[{"name":"4Centre d\u2019Investigation Clinique \u2013 Epid\u00e9miologie Clinique (CIC-EC) U1410 INSERM, Centre Hospitalo-Universitaire de la R\u00e9union, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samir","family":"Medjane","sequence":"additional","affiliation":[{"name":"5D\u00e9l\u00e9gation \u00e0 la Recherche Clinique et \u00e0 l\u2019Innovation de La R\u00e9union (DRCI), Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oriane","family":"Bonfanti","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Schneebeli","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bernard","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Le-Moullec","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faouzi","family":"Bakiri","sequence":"additional","affiliation":[{"name":"3Department of Endocrinology, Diabetes and Nutrition, Felix-Guyon, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Denis, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryse","family":"Pholsena","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Rollot","sequence":"additional","affiliation":[{"name":"4Centre d\u2019Investigation Clinique \u2013 Epid\u00e9miologie Clinique (CIC-EC) U1410 INSERM, Centre Hospitalo-Universitaire de la R\u00e9union, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[{"name":"6Sorbonne Universit\u00e9, Inserm UMR S938, Saint-Antoine Research Centre, AP-HP, Saint-Antoine Hospital, Genetics, Molecular Biology and Endocrinology Departments, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Jarlet","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"J\u00e9ru","sequence":"additional","affiliation":[{"name":"6Sorbonne Universit\u00e9, Inserm UMR S938, Saint-Antoine Research Centre, AP-HP, Saint-Antoine Hospital, Genetics, Molecular Biology and Endocrinology Departments, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lascols","sequence":"additional","affiliation":[{"name":"6Sorbonne Universit\u00e9, Inserm UMR S938, Saint-Antoine Research Centre, AP-HP, Saint-Antoine Hospital, Genetics, Molecular Biology and Endocrinology Departments, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Darcel","sequence":"additional","affiliation":[{"name":"7Department of Neurology and Rare Neuromuscular Diseases, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhoopendrasing","family":"Domun","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Venault","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Venault","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Line","family":"Jacquemont","sequence":"additional","affiliation":[{"name":"7Department of Neurology and Rare Neuromuscular Diseases, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"},{"name":"8Genetic Department, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice","family":"Doray","sequence":"additional","affiliation":[{"name":"9Genetic Department, Felix-Guyon, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Denis, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Maiza","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Cogne","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Diabetes and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union, Saint-Pierre, La R\u00e9union, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"6Sorbonne Universit\u00e9, Inserm UMR S938, Saint-Antoine Research Centre, AP-HP, Saint-Antoine Hospital, Genetics, Molecular Biology and Endocrinology Departments, National Reference Centre for Rare Diseases of Insulin Secretion and 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