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

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 vari

SUBMITTER: da Silva MA 

PROVIDER: S-EPMC11218129 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature