{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:57:36Z","timestamp":1790816256678,"version":"4.1.0"},"reference-count":34,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Italian Ministry of the University","award":["2017L8Z2EM"],"award-info":[{"award-number":["2017L8Z2EM"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and\/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose, and partial alopecia manifesting around 10 to 15 years of age recurrently associated with: (1) partial lipodystrophy; (2) proteinuric nephropathy; (3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); and (4) sensorineural hearing impairment. In all patients, genetic testing revealed a missense heterozygous lamin A\/C gene (LMNA) mutation c.1045 C\u2005&amp;gt;\u2005T (p.Arg349Trp). Ten patients with LMNA p.R349W mutation have been reported so far, all presenting with similar features, which represent the key pathological hallmarks of this subtype of APS. The associated kidney and cardiac complications occurring in the natural history of the disease may reduce life expectancy. Therefore, in these patients a careful and periodic cardiac and kidney function evaluation is required.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa108","type":"journal-article","created":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T16:27:11Z","timestamp":1596299231000},"source":"Crossref","is-referenced-by-count":18,"title":["Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation"],"prefix":"10.1210","volume":"4","author":[{"given":"Silvia","family":"Magno","sequence":"first","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Pelosini","sequence":"additional","affiliation":[{"name":"Laboratories of Clinical Chemistry and Endocrinology of the University Hospital of Cisanello, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Prodam","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences \u201cAmedeo Avogadro\u201d University of Novara, University of Piemonte Orientale, Division of Pediatrics, Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Gilio","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Maffei","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy"},{"name":"CNR Institute of Clinical Physiology, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Sessa","sequence":"additional","affiliation":[{"name":"Laboratories of Clinical Chemistry and Endocrinology of the University Hospital of Cisanello, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Barison","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio, Pisa, Italy"},{"name":"Institute of Life Sciences, Scuola Superiore Sant\u2019Anna, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Ciccarone","sequence":"additional","affiliation":[{"name":"Section of Diabetes 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2020,8,1]]},"reference":[{"issue":"5","key":"2020090513422355500_CIT0001","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1186\/gb-2011-12-5-222","article-title":"The lamin protein family","volume":"12","author":"Dittmer","year":"2011","journal-title":"Genome Biol."},{"issue":"1","key":"2020090513422355500_CIT0002","first-page":"7","article-title":"Overlapping syndromes in laminopathies: a meta-analysis of the reported literature","volume":"32","author":"Carboni","year":"2013","journal-title":"Acta Myol."},{"issue":"1","key":"2020090513422355500_CIT0003","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s40618-018-0887-z","article-title":"Diagnosis and treatment of lipodystrophy: a step-by-step approach","volume":"42","author":"Ara\u00fajo-Vilar","year":"2019","journal-title":"J Endocrinol 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