{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T16:19:15Z","timestamp":1785946755844,"version":"3.56.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T00:00:00Z","timestamp":1454630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabet. Med."],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p>To describe the phenotype associated with a novel heterozygous missense <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor \u2010\u03b3 (<jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic>) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A\/C (<jats:italic><jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content><\/jats:italic>) mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study involved four subjects with familial partial lipodystrophy who had a novel <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> mutation (H449L) and six subjects with classic codon 482 <jats:italic><jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content><\/jats:italic> mutations (R482W).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compared with subjects with <jats:italic><jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content><\/jats:italic> R482W mutation, fat loss was generally less prominent in subjects with the <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> H449L mutation. Partial fat loss was limited to the extremities, whilst truncal fat mass was preserved. The <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> H449L mutation was associated with insulin resistance, hypertriglyceridaemia and non\u2010alcoholic fatty liver disease in all affected subjects, but the severity was variable. Three out of four mutation carriers had overt diabetes or impaired glucose tolerance. Pioglitazone therapy in these three individuals resulted in a modest improvement in their metabolic control, and regular menstrual cycles in the two female subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We suggest that relatively modest fat loss in patients with <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> mutations may render the recognition of the syndrome more difficult in routine clinical practice. The <jats:italic><jats:styled-content style=\"fixed-case\">PPARG<\/jats:styled-content><\/jats:italic> H449L mutation is associated with insulin resistance and metabolic complications, but their severity is variable among the affected subjects.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.13061","type":"journal-article","created":{"date-parts":[[2016,1,12]],"date-time":"2016-01-12T14:27:45Z","timestamp":1452608865000},"page":"1445-1450","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor \u2010\u03b3 (<i><scp>PPARG<\/scp><\/i>) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A\/C (<i><scp>LMNA<\/scp><\/i>) mutations"],"prefix":"10.1111","volume":"33","author":[{"given":"T.","family":"Demir","sequence":"first","affiliation":[{"name":"Dokuz Eylul University Division of Endocrinology Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Onay","sequence":"additional","affiliation":[{"name":"Ege University Department of Medical Genetics Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. B.","family":"Savage","sequence":"additional","affiliation":[{"name":"University of Cambridge Metabolic Research Laboratories Wellcome Trust\u2010Medical Research Council Institute of Metabolic Science Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Temeloglu","sequence":"additional","affiliation":[{"name":"Istanbul University Cerrahpasa Medical Faculty Division of Endocrinology Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. K.","family":"Uzum","sequence":"additional","affiliation":[{"name":"Istanbul University Capa Medical Faculty Division of Endocrinology Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kadioglu","sequence":"additional","affiliation":[{"name":"Istanbul University Cerrahpasa Medical Faculty Division of Endocrinology Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Altay","sequence":"additional","affiliation":[{"name":"Dokuz Eylul University Department of Radiology Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ozen","sequence":"additional","affiliation":[{"name":"Ege University Department of Medical Genetics Izmir Turkey"},{"name":"Ege University Division of Paediatric Endocrinology Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Demir","sequence":"additional","affiliation":[{"name":"Ataturk Training Hospital Department of Biochemistry Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Cavdar","sequence":"additional","affiliation":[{"name":"Dokuz Eylul University Division of Endocrinology Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Akinci","sequence":"additional","affiliation":[{"name":"Dokuz Eylul University Division of Endocrinology Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1159"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/47254"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.52.4.910"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2624"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1807"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00674.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00064.2004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.1.408"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.5.652"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.51.12.3586"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.20.5.649"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1410428111"}],"container-title":["Diabetic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdme.13061","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dme.13061","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T20:17:22Z","timestamp":1694895442000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dme.13061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,5]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/dme.13061"],"URL":"https:\/\/doi.org\/10.1111\/dme.13061","archive":["Portico"],"relation":{},"ISSN":["0742-3071","1464-5491"],"issn-type":[{"value":"0742-3071","type":"print"},{"value":"1464-5491","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,5]]},"assertion":[{"value":"2016-01-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-02-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}