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Article

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

Frontiers in endocrinology - 1 Jan 2023

Mancioppi Valentina, Daffara Tommaso, Romanisio Martina, Ceccarini Giovanni, Pelosini Caterina, Santini Ferruccio, Bellone Simonetta, Mellone Simona, Baricich Alessio, Rabbone Ivana, Aimaretti Gianluca, Akinci Baris, Giordano Mara, Prodam Flavia

Abstract excerpt

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene. It encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which,...

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Identifiers

PMID: 37501786
DOI: 10.3389/fendo.2023.1212729
PMCID: PMC10369054

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