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Two related patients had a heterozygous, likely pathogenic novel variant of\n \n POLD<\/jats:styled-content>\n 1\n <\/jats:italic>\n (\n NM<\/jats:styled-content>\n 002691\u00b73: c.3199 G>A; p.E1067K). Most patients had high ratios (>1\u00b75) of percentage fat trunk to percentage fat legs (\n FMR<\/jats:styled-content>\n ) when compared to reference normals. Liver fat quantified using MR Dixon method was high (11\u00b73 \u00b1 6\u00b73%) and correlated positively with haemoglobin A1c and triglycerides while leg fat by dual\u2010energy X\u2010ray absorptiometry (\n DEXA<\/jats:styled-content>\n ) correlated negatively with triglycerides. In addition to known metabolic comorbidities; chronic pain (78\u00b73%), hypertension (56\u00b75%) and mood disorders (52\u00b72%) were highly prevalent. Mean NAFLD Activity Score (\n NAS<\/jats:styled-content>\n ) was 5 \u00b1 1 and 78\u00b73% had fibrosis.\n LMNA<\/jats:styled-content>\n \u2010immunofluorescence staining from select patients (including one with the novel\n \n POLD<\/jats:styled-content>\n 1\n <\/jats:italic>\n variant) showed a high degree of nuclear atypia and disorganization.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Partial lipodystrophy is a complex multi\u2010system disorder. Metabolic parameters correlate negatively with extremity fat and positively with liver fat.\n DEXA<\/jats:styled-content>\n \u2010based\n FMR<\/jats:styled-content>\n may prove useful as a diagnostic tool. Nuclear disorganization and atypia may be a common biomarker even in the absence of pathogenic variants in\n LMNA<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cen.13311","type":"journal-article","created":{"date-parts":[[2017,2,15]],"date-time":"2017-02-15T16:32:48Z","timestamp":1487176368000},"page":"698-707","source":"Crossref","is-referenced-by-count":99,"title":["Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort"],"prefix":"10.1111","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0105-1160","authenticated-orcid":false,"given":"Nevin","family":"Ajluni","sequence":"first","affiliation":[{"name":"Brehm Center for Diabetes Research and Division of Metabolism Endocrinology & Diabetes University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasimcan","family":"Meral","sequence":"additional","affiliation":[{"name":"Brehm Center for Diabetes Research and Division of Metabolism Endocrinology & Diabetes University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam H.","family":"Neidert","sequence":"additional","affiliation":[{"name":"Brehm Center for Diabetes Research and Division of Metabolism Endocrinology & Diabetes University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham F.","family":"Brady","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology Department of Internal Medicine University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Buras","sequence":"additional","affiliation":[{"name":"Brehm Center for Diabetes Research and Division of Metabolism Endocrinology & Diabetes University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"McKenna","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"DiPaola","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Chenevert","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey F.","family":"Horowitz","sequence":"additional","affiliation":[{"name":"School of Kinesiology University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Buggs\u2010Saxton","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Children's Hospital of Michigan Wayne State University School of Medicine Detroit MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit R.","family":"Rupani","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Communicable Diseases and Human Genetics University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peedikayil E.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Communicable Diseases and Human Genetics University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan K.","family":"Tayeh","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Communicable Diseases and Human Genetics University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Communicable Diseases and Human Genetics University of Michigan Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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