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Study · Case report or series · n = 1 · 2026

2 results

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

Mendoza C, Cano R, Burgos L, Silvera CA

Frontiers in endocrinology10 Apr 2026

PMID42039119 (opens in a new tab)PMCIDPMC13106280 (opens in a new tab)DOI10.3389/fendo.2026.1788846 (opens in a new tab)PepBankPUB-42039119
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Summary

IntroductionFamilial 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.MethodsThree Colombian women (two sisters and a daughter) underwent standardized clinical phenotyping, dual-energy X-ray absorptiometry (DXA), cardiometabolic laboratory testing, and next-generation sequencing-based testing for lipodystrophy-related genes with copy-number variant analysis.ResultsAll patients carried the heterozygous LMNA variant c.604G>C (p.Glu202Gln). Patients 1 and 2 exhibited classic Dunnigan phenotypes with diabetes and severe hypertriglyceridemia (up to 1,471 mg/dL), as well as imaging evidence of metabolic dysfunction-associated steatotic liver disease. Patient 3 (age 27) presented an evolving phenotype with central adiposity, clinically reported lower-limb fat loss, and insulin resistance (homeostatic model assessment for insulin resistance [HOMA-IR], 4), without hepatic steatosis on abdominal ultrasound. Management optimization in Patients 1 and 2 using contemporary combination therapy, including glucagon-like peptide-1 receptor agonist-based treatment and sodium-glucose cotransporter-2 inhibitors, was followed by sustained improvement in glycemia (HbA1c 11.1% to 7.6% in Patient 1) and triglycerides. In Patient 3, liraglutide was discontinued due to poor tolerability and limited weight response, and she was transitioned to semaglutide in February 2026.ConclusionsThis case series expands the phenotypic spectrum of LMNA-associated FPLD2 and supports a disease association for the p.Glu202Gln variant despite its current classification as a variant of uncertain significance. It demonstrates that modern cardiometabolic therapies can be implemented in middle-income settings; however, the absence of functional data, population frequency metrics, and genetic testing in unaffected relatives limits the strength of variant interpretation.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study2

2 results from studies that gave the peptide. 2 results from people.

  1. 01HumanCase report or seriesSafety outcome

    In a 27-year-old woman with familial partial lipodystrophy, liraglutide was discontinued because of poor tolerability.

    In plain wordsIn one 27-year-old woman with familial partial lipodystrophy, liraglutide was stopped because it was poorly tolerated.

    Peptide
    Liraglutide
    Outcome
    Not applicableTolerability
    Study

    n = 1

    Outcome group
    Adverse events · Whole body
    Studied dose
    Dose not stated

    Source sentences

    Summary
    In Patient 3, liraglutide was discontinued due to poor tolerability and limited weight response, and she was transitioned to semaglutide in February 2026.
    3 context sentences
    Title · context
    Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.
    Summary · context
    Three Colombian women (two sisters and a daughter) underwent standardized clinical phenotyping, dual-energy X-ray absorptiometry (DXA), cardiometabolic laboratory testing, and next-generation sequencing-based testing for lipodystrophy-related genes with copy-number variant analysis.
    Summary · context
    Patient 3 (age 27) presented an evolving phenotype with central adiposity, clinically reported lower-limb fat loss, and insulin resistance (homeostatic model assessment for insulin resistance [HOMA-IR], 4), without hepatic steatosis on abdominal ultrasound.
  2. 02HumanCase report or seriesEfficacy outcome

    In a 27-year-old woman with familial partial lipodystrophy, liraglutide was discontinued because of limited weight response.

    In plain wordsIn one 27-year-old woman with familial partial lipodystrophy, liraglutide had limited weight response.

    Peptide
    Liraglutide
    Outcome
    Direction not reportedWeight response
    Study

    n = 1

    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated

    Source sentences

    Summary
    In Patient 3, liraglutide was discontinued due to poor tolerability and limited weight response, and she was transitioned to semaglutide in February 2026.
    3 context sentences
    Title · context
    Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.
    Summary · context
    Three Colombian women (two sisters and a daughter) underwent standardized clinical phenotyping, dual-energy X-ray absorptiometry (DXA), cardiometabolic laboratory testing, and next-generation sequencing-based testing for lipodystrophy-related genes with copy-number variant analysis.
    Summary · context
    Patient 3 (age 27) presented an evolving phenotype with central adiposity, clinically reported lower-limb fat loss, and insulin resistance (homeostatic model assessment for insulin resistance [HOMA-IR], 4), without hepatic steatosis on abdominal ultrasound.

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Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 3Current

    12 Oct 2026, 11:11 UTC

    Study results updated

  2. Version 2

    9 Oct 2026, 03:06 UTC

    Study data updated · source update from Europe PMC

  3. Version 1

    9 Oct 2026, 03:05 UTC

    First added · source update from Europe PMC

Subjects

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