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Partial Lipodystrophy and LMNA p.R545H Variant.

Silvia Magno¹, Giovanni Ceccarini¹, Andrea Barison^2,3

¹Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.

Journal of Clinical Medicine

|April 3, 2021

Summary

Mutations in the LMNA gene cause laminopathies. The LMNA p.R545H variant shows variable expressivity and incomplete penetrance, suggesting other factors influence disease presentation.

Keywords:

FPLD2 LMNA mutation familial partial lipodystrophy type 2 leptin lipodystrophy

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Area of Science:

Genetics
Molecular Biology
Medical Science

Background:

Laminopathies arise from mutations in the LMNA gene, leading to diverse clinical presentations.
The precise mechanisms driving tissue specificity and varied clinical outcomes in laminopathies remain unclear.

Purpose of the Study:

To investigate the clinical and molecular characteristics of a patient with a heterozygous LMNA c.1634G>A (p.R545H) variant.
To explore the variable expressivity and incomplete penetrance associated with the LMNA p.R545H variant.

Main Methods:

Case study of a patient with suspected lipodystrophy and a heterozygous LMNA p.R545H variant.
In silico analysis of the p.R545H amino acid substitution.
Review of clinical data from other patients with the LMNA p.R545H allele.

Main Results:

The patient presented with mild, transient myopathy and abnormal subcutaneous fat distribution, mimicking familial partial lipodystrophy type 2.
The LMNA p.R545H variant, found at low frequency, is predicted to be damaging by in silico analysis.
Other patients with the p.R545H allele exhibited significant heterogeneity in body fat distribution and organ involvement.

Conclusions:

The heterozygous LMNA p.R545H variant displays incomplete penetrance and highly variable expressivity.
Additional genetic, epigenetic, or environmental factors likely contribute to the phenotypic variability observed in patients with this variant.