{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:47:29Z","timestamp":1791276449477,"version":"4.1.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Mutations in<jats:italic>LMNA<\/jats:italic>have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. Among the lipodystrophies,<jats:italic>LMNA<\/jats:italic>mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been observed. In this study, we searched for<jats:italic>LMNA<\/jats:italic>mutations in patients with various forms of lipodystrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>We studied 21 unrelated individuals with lipodystrophy. Subjects underwent a complete clinical evaluation and were classified as typical FPLD (<jats:italic>n<\/jats:italic>=12), atypical partial lipodystrophy (<jats:italic>n<\/jats:italic>=7), or generalized lipodystrophy (<jats:italic>n<\/jats:italic>=2). Molecular analysis of<jats:italic>LMNA<\/jats:italic>gene, analysis of body fat by dual-energy X-ray absorptiometry, and biochemical measurements were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients with typical FPLD were found to carry<jats:italic>LMNA<\/jats:italic>mutations: seven patients harbored the heterozygous p.R482W (c.1444C&gt;T), two patients harbored the p.R482Q (c.1445G&gt;A), and two individuals harbored the novel heterozygous variant p.N466D (c.1396A&gt;G), all in exon 8. Also, a homozygous p.R584H (c.1751 G&gt;A) mutation in exon 11 was found. Among patients with atypical partial lipodystrophy, two of them were found to have<jats:italic>LMNA<\/jats:italic>mutations: a novel heterozygous p.R582C variation (c.1744 C&gt;T) in exon 11 and a heterozygous substitution p.R349W (c.1045C&gt;T) in exon 6. Among patients with generalized lipodystrophy, only one harbored<jats:italic>LMNA<\/jats:italic>mutation, a heterozygous p.T10I (c.29C&gt;T) in exon 1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have identified<jats:italic>LMNA<\/jats:italic>mutations in phenotypically diverse lipodystrophies. Also, our study broadens the spectrum of<jats:italic>LMNA<\/jats:italic>mutations in lipodystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-12-0268","type":"journal-article","created":{"date-parts":[[2012,6,15]],"date-time":"2012-06-15T03:14:53Z","timestamp":1339730093000},"page":"423-431","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":65,"title":["Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations"],"prefix":"10.1093","volume":"167","author":[{"given":"Patricia B","family":"Mory","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Crispim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Beatriz S","family":"Freire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Eduardo N","family":"Salles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia M","family":"Val\u00e9rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelio F","family":"Godoy-Matos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9rgio A","family":"Dib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina S","family":"Mois\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"22","key":"1_14408680","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","volume":"268","author":"Lin","year":"1993","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"7","key":"2_35261261","doi-asserted-by":"publisher","first-page":"1825","DOI":"10.1172\/JCI37679","volume":"119","author":"Worman","year":"2009","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"3","key":"3_10751660","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/6799","volume":"21","author":"Bonne","year":"1999","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"9","key":"4_10319474","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","volume":"9","author":"Muchir","year":"2000","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"23","key":"5_6375178","doi-asserted-by":"publisher","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","volume":"341","author":"Fatkin","year":"1999","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"3","key":"6_16914308","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1086\/339274","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"6937","key":"7_17629219","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1038\/nature01629","volume":"423","author":"Eriksson","year":"2003","journal-title":"Nature; 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