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Open Access 01-07-2024 | Familial Partial Lipodystrophy | Research

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil

Authors: Monique Alvares da Silva, Reivla Marques Vasconcelos Soares, Antônio Fernandes de Oliveira Filho, Leonardo René Santos Campos, Josivan Gomes de Lima, Julliane Tamara Araújo de Melo Campos

Published in: Diabetology & Metabolic Syndrome | Issue 1/2024

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Abstract

Introduction and aim

Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. 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 PPARG pathogenic variants.

Materials and methods

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 PPARγ proteins.

Results

We clinically described FPLD patients harboring two novel heterozygous PPARG variants in Brazil. Case 1 had the c.533T > C variant, which promotes the substitution of leucine to proline in position 178 (p.Leu178Pro), and cases 2 and 3 had the c.641 C > T variant, which results in the substitution of proline to leucine in the position 214 (p.Pro214Leu) at the PPARγ2 protein. These variants result in substantial conformational changes in the PPARγ2 protein.

Conclusion

Two novel PPARG 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 PPARG gene.
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Metadata
Title
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil
Authors
Monique Alvares da Silva
Reivla Marques Vasconcelos Soares
Antônio Fernandes de Oliveira Filho
Leonardo René Santos Campos
Josivan Gomes de Lima
Julliane Tamara Araújo de Melo Campos
Publication date
01-07-2024
Publisher
BioMed Central
Published in
Diabetology & Metabolic Syndrome / Issue 1/2024
Electronic ISSN: 1758-5996
DOI
https://doi.org/10.1186/s13098-024-01387-9

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