What is the clinical evidence from this study?

Study design: Case Report. Population: Familial partial lipodystrophy 2 (FPLD2) (n=2). Intervention: LMNA c.1772G > T (C591F) mutation. Primary outcome: Clinical and molecular features.

What question did this study set out to answer?

To characterize the clinical presentation and molecular mechanisms of a novel LMNA mutation in a family presenting with familial partial lipodystrophy and severe cardiac disease.

June 17, 2008Clinical Endocrinology

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

View Full Paper

Ask AI

Bookmark

Key result

A novel c.1772G>T (C591F) missense mutation in the LMNA gene was identified, causing a new clinical form of FPLD2 characterized by partial lipodystrophy, insulin resistance, and cardiac involvement.

Key Points

To characterize the clinical presentation and molecular mechanisms of a novel LMNA mutation in a family presenting with familial partial lipodystrophy and severe cardiac disease.
Sequenced the LMNA gene in a female proband and her family members alongside clinical evaluations including DEXA body scans, minimal model insulin sensitivity tests, and echocardiograms.
Transfected mouse 3T3-L1 preadipocytes with wild-type and mutant prelamin A constructs, evaluating nuclear localization via Cy3-conjugated anti-FLAG antibody staining.
Identified a novel heterozygous missense mutation in exon 11 of the LMNA gene (c.1772G > T, p.C591F) in the proband and her 11-year-old son.
The proband exhibited atypical fat loss, marked insulin resistance, severe aortic stenosis, and hypertrophic cardiomyopathy, while her son exhibited early aortic disease without lipodystrophy.
In vitro transfection of preadipocytes revealed that the mutant lamin A isoform mislocalized aberrantly within the nucleus compared to wild-type protein.

Study Design

Type

Case Report (n=2)

Structured PICO

Population

A woman with FPLD phenotype and her 11-year-old son, both evaluated for clinical and molecular features of laminopathy.

Outcome

Clinical and molecular features, including LMNA gene mutational analysis, insulin resistance, body composition, and echocardiography.

A novel LMNA mutation (C591F) is associated with a new phenotypic expression of familial partial lipodystrophy 2 that includes severe aortic stenosis and hypertrophic cardiomyopathy.

Authors

DADavid Araújo‐VilarUniversidad de Santiago de Chile JLJoaquín Lado‐AbealUC Davis Health System GLGiovanna LattanziAzienda Ospedaliera di Perugia

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

May warrant cardiac screening in LMNA-related FPLD2; extends phenotypic spectrum but remains hypothesis-generating from single case.

Cite This Study

Araújo‐Vilar et al. (2008) conducted a case report in Familial partial lipodystrophy 2 (FPLD2) (n=2). LMNA c.1772G > T (C591F) mutation was evaluated on Clinical and molecular features. A novel c.1772G>T (C591F) missense mutation in the LMNA gene was identified, causing a new clinical form of FPLD2 characterized by partial lipodystrophy, insulin resistance, and cardiac involvement.

synapsesocial.com/papers/6a9f818e2c4b2bcfa3f3cd6e https://doi.org/10.1111/j.1365-2265.2007.03146.x

Topics

Hypertrophic cardiomyopathy

View Full Paper

Ask AI

Bookmark

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

Topics

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Topics

Also Consider