{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:24:19Z","timestamp":1790688259249,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Lipodystrophies are a heterogeneous group of diseases characterized by abnormal fat distribution. Familial partial lipodystrophy 2 (FPLD2) is due to mutations in the <jats:italic>LMNA<\/jats:italic> gene. Previous studies have suggested that <jats:italic>LMNA<\/jats:italic> mutations 5\u2032 to the nuclear localization signal (NLS) are more likely to underlie laminopathies with cardiac or skeletal muscle involvement, while mutations 3\u2032 to the NLS are more likely to underlie lipodystrophy and progeroid syndromes.<\/jats:p><jats:p><jats:bold>Objective\u2002<\/jats:bold> To study the clinical and molecular features of a subject with FPLD.<\/jats:p><jats:p><jats:bold>Subjects and methods\u2002<\/jats:bold> We carried out mutational analysis of <jats:italic>LMNA<\/jats:italic> gene in a woman with FPLD phenotype and in her relatives. Insulin resistance was evaluated by minimal model. Body composition was evaluated by dual\u2010energy X\u2010ray absorptiometry (DEXA). Echocardiography was done in affected subjects. 3T3\u2010L1 preadipocytes were transfected with wild\u2010type or mutant prelamin A constructs. In transfected cells, lamin A was detected using a Cy3\u2010conjugated monoclonal anti\u2010FLAG antibody.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The patient showed atypical fat distribution, insulin resistance, severe aortic stenosis and hypertrophic cardiomyopathy. She has an affected 11\u2010year\u2010old son, not yet lipodystrophic but with an incipient aortic disease. <jats:italic>LMNA<\/jats:italic> sequencing showed that mother and son were both heterozygous for a novel c.1772G\u00a0&gt;\u00a0T missense mutation in exon 11, which causes the substitution of the cysteine at residue 591 by a phenylalanine (C591F). In mouse preadipocytes transfected with the mutant human <jats:italic>LMNA<\/jats:italic> gene, the mutant lamin A isoform was mislocated in the nucleus.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> This patient shows a novel clinical form of FPLD2, due to a mutation affecting lamin A only, with cardiac involvement.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2007.03146.x","type":"journal-article","created":{"date-parts":[[2008,6,17]],"date-time":"2008-06-17T13:20:22Z","timestamp":1213708822000},"page":"61-68","source":"Crossref","is-referenced-by-count":39,"title":["A novel phenotypic expression associated with a new mutation in <i>LMNA<\/i> gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy"],"prefix":"10.1111","volume":"69","author":[{"given":"David","family":"Ara\u00fajo\u2010Vilar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquin","family":"Lado\u2010Abeal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Palos\u2010Paz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Lattanzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel A.","family":"Band\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Bellido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lourdes","family":"Dom\u00ednguez\u2010Gerpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Calvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia","family":"Ramazanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelia","family":"Mart\u00ednez\u2010S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta","family":"Victoria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Teresa","family":"Costa\u2010Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.109"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/jsbi.1998.3987"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/6799"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/302869"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1453"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199912023412302"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/339274"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/341908"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302836"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.49.11.1958"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-38388"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00740.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021506"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.4.620"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/51.6.1106"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(98)90263-3"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(91)90183-W"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.1979.236.6.E667"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8227(97)00126-5"},{"key":"e_1_2_6_22_2","first-page":"9","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook J.","year":"1989"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3431"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M007454200"},{"key":"e_1_2_6_25_2","unstructured":"Haney E.M. 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