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FPLD3 is characterized by a loss of fatty tissue in the upper and lower limbs, hips, and face. FPLD3 pathophysiology is usually associated with metabolic comorbidities such as type 2 diabetes, insulin resistance, hypertriglyceridemia, and liver dysfunction. Here, we clinically and molecularly characterized FPLD3 patients harboring novel <jats:italic>PPARG<\/jats:italic> pathogenic variants.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Materials and methods<\/jats:title>\n                <jats:p>Lipodystrophy-suspected patients were recruited by clinicians from an Endocrinology Reference Center. Clinical evaluation was performed, biological samples were collected for biochemical analysis, and DNA sequencing was performed to define the pathogenic variants associated with the lipodystrophic phenotype found in our clinically diagnosed FPLD subjects. Bioinformatics predictions were conducted to characterize the novel mutated PPAR\u03b3 proteins.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We clinically described FPLD patients harboring two novel heterozygous <jats:italic>PPARG<\/jats:italic> variants in Brazil. Case 1 had the c.533T\u2009&gt;\u2009C variant, which promotes the substitution of leucine to proline in position 178 (p.Leu178Pro), and cases 2 and 3 had the c.641\u00a0C\u2009&gt;\u2009T variant, which results in the substitution of proline to leucine in the position 214 (p.Pro214Leu) at the PPAR\u03b32 protein. These variants result in substantial conformational changes in the PPAR\u03b32 protein.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Two novel <jats:italic>PPARG<\/jats:italic> pathogenic variants related to FPLD3 were identified in a Brazilian FPLD cohort. These data will provide new epidemiologic data concerning FPLD3 and help understand the genotype-phenotype relationships related to the <jats:italic>PPARG<\/jats:italic> gene.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13098-024-01387-9","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T02:02:11Z","timestamp":1719885731000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil"],"prefix":"10.1186","volume":"16","author":[{"given":"Monique Alvares","family":"da Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reivla Marques Vasconcelos","family":"Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio Fernandes","family":"de Oliveira Filho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo Ren\u00e9 Santos","family":"Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josivan Gomes","family":"de Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julliane Tamara Ara\u00fajo","family":"de Melo Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,1]]},"reference":[{"key":"1387_CR1","doi-asserted-by":"publisher","first-page":"375","DOI":"10.2147\/DMSO.S130810","volume":"10","author":"E Chiquette","year":"2017","unstructured":"Chiquette E, Oral EA, Garg A, Ara\u00fajo-Vilar D, Dhankhar P. 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