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Article

Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.

Frontiers in endocrinology - 1 Jan 2026

Mendoza Carolina, Cano Raquel, Burgos Luis, Silvera Carlos Arturo

Abstract excerpt

Introduction: Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant laminopathy caused by LMNA gene variants. It is characterized by progressive gluteofemoral lipoatrophy and severe metabolic derangements, including insulin resistance and metabolic dysfunction-associated steatotic liver disease. Methods: Three Colombian women (two sisters and a daughter) underwent standardized clinical...

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Identifiers

PMID: 42039119
DOI: 10.3389/fendo.2026.1788846
PMCID: PMC13106280

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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