What does this research mean for the field?

Five patients with familial partial lipodystrophy exhibit novel or ultrarare pathogenic variants in LMNA and LIPE, expanding the genetic and phenotypic spectrum of the disorder. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

The aim is to describe novel genetic variants influencing familial partial lipodystrophy (FPLD) and associated phenotypes.

March 7, 2026Frontiers in EndocrinologyOpen Access

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

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The aim is to describe novel genetic variants influencing familial partial lipodystrophy (FPLD) and associated phenotypes.
Reported cases of five patients with novel pathogenic variants
Analysis of genetic variants in LMNA and LIPE genes
Examination of clinical features including fat distribution and metabolic health
Identification of novel variants in LMNA and LIPE genes
All patients exhibited abnormal fat distribution and metabolic issues
Interindividual variability was observed in fat loss patterns
LMNA cases had cardiac issues, while LIPE presented unique fat redistribution patterns

Authors

SMSilvia MagnoUniversity of Pisa CPCaterina PelosiniUniversity of Pisa MPMelania PaoliUniversity of Pisa

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Implication

Case report describes novel variants in familial partial lipodystrophy, highlighting genetic impacts on fat distribution and metabolism.

Cite This Study

Magno et al. (2026) studied this question.

synapsesocial.com/papers/69abc1235af8044f7a4e9b3f https://doi.org/10.3389/fendo.2026.1725771

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

Key Points

Discussion

Implication

Cite This Study

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

Key Points

Discussion

Implication

Cite This Study

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