{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T14:26:31Z","timestamp":1770992791337,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant disorder caused by pathogenic variants in the <jats:italic>LMNA<\/jats:italic> gene. The influence of parental inheritance on clinical presentation has not been fully explored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the influence of maternal versus paternal inheritance of <jats:italic>LMNA<\/jats:italic> variants on the clinical and metabolic phenotype of patients with FPLD2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients, Measurements<\/jats:title><jats:p>This retrospective cohort study included 83 patients with FPLD2 from four different centres. Clinical, biochemical, and body composition data were analysed. Patients were grouped based on maternal (maternal inheritance group; <jats:italic>n<\/jats:italic>\u2009=\u200949) or paternal (paternal inheritance group; <jats:italic>n<\/jats:italic>\u2009=\u200934) inheritance of <jats:italic>LMNA<\/jats:italic> variants. Statistical comparisons were made between the groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients in the maternal inheritance group had a younger current age (35 (33) vs. 48 (22) years, <jats:italic>p<\/jats:italic>\u2009=\u20090.042) and earlier diagnosis of lipodystrophy (22 (30) vs. 36 (25) years, <jats:italic>p<\/jats:italic>\u2009=\u20090.044) compared to those in the paternal inheritance group. Body fat percentages in the arms (23.8 (6.5) % vs. 21.0 (6.2) %, <jats:italic>p<\/jats:italic>\u2009=\u20090.034) and trunk (32.1 (10.3) % vs. 28.5 (6.1) %, <jats:italic>p<\/jats:italic>\u2009=\u20090.024) were higher in maternal inheritance group. Fatty liver disease (79% vs. 57%, <jats:italic>p<\/jats:italic>\u2009=\u20090.029) and pancreatitis (26% vs. 8%, <jats:italic>p<\/jats:italic>\u2009=\u20090.033) were more prevalent in paternal inheritance group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Parental lineage may influence the phenotype of FPLD2: patients with a maternally inherited <jats:italic>LMNA<\/jats:italic> variant tend to preserve more adipose tissue in the upper body, while those with a paternally inherited variant experience greater adipose tissue loss in that region, often associated with more severe metabolic complications. These findings highlight the importance of contemplating parental lineage as a relevant factor when evaluating the clinical presentation and management of patients with FPLD2.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.15303","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T05:34:27Z","timestamp":1752730467000},"page":"504-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome"],"prefix":"10.1111","volume":"103","author":[{"given":"Donatella","family":"Gilio","sequence":"first","affiliation":[{"name":"Endocrinology and Diabetes Division, Department of Internal Medicine, Caswell Diabetes Institute and Metabolism University of Michigan Medical School Ann Arbor Michigan USA"},{"name":"Department of Clinical and Translational Sciences University of Pisa Pisa Italy"},{"name":"Endocrinology Unit, Obesity and Lipodystrophy Center University Hospital of Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozge","family":"Besci","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Division, Department of Internal Medicine, Caswell Diabetes Institute and Metabolism University of Michigan Medical School Ann Arbor Michigan USA"},{"name":"Division of Pediatric Endocrinology Dokuz Eylul University Izmir T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nat\u00e1lia Rossin","family":"Guidorizzi","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine University of S\u00e3o Paulo Ribeir\u00e3o Preto Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1112-7640","authenticated-orcid":false,"given":"Merve Celik","family":"Guler","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Division, Department of Internal Medicine, Caswell Diabetes Institute and Metabolism University of Michigan Medical School Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilgin Yildirim","family":"Simsir","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine Ege University Izmir T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Pelosini","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Obesity and Lipodystrophy Center University Hospital of Pisa Pisa Italy"},{"name":"Chemistry and Endocrinology Laboratory University Hospital of Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Obesity and Lipodystrophy Center University Hospital of Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Korcan","family":"Demir","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology Dokuz Eylul University Izmir T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8634-4845","authenticated-orcid":false,"given":"Baris","family":"Akinci","sequence":"additional","affiliation":[{"name":"Technological Research Program, Izmir Biomedicine and Genome Center &amp; 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