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Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.

Frontiers in endocrinology - 1 Jan 2026

Magno Silvia, Pelosini Caterina, Paoli Melania, Gilio Donatella, Palladino Lavinia, Menconi Francesca, Barison Andrea, Todiere Giancarlo, Ortori Simona, Coco Barbara, Paolucci Giordano, Salvetti Guido, Sessa Maria Rita, Ceccarini Giovanni, Santini Ferruccio

Abstract excerpt

Familial partial lipodystrophy (FPLD) is a rare inherited disorder characterized by selective loss of subcutaneous fat and severe metabolic complications. Eight subtypes of FPLD have been described to date, most of which are caused by variants in genes involved in adipocyte differentiation and lipid metabolism. The most common form, FPLD type 2, is caused by heterozygous variants in the LMNA gene, whereas much...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41858864
DOI: 10.3389/fendo.2026.1725771
PMCID: PMC12997130

Genes

LIPE
LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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