Case Report: A Novel PNPLA2 Variant Causing Neutral Lipid Storage Disease with Myopathy

Elena Faedo authored a clinical case report describing a novel homozygous frameshift variant in the PNPLA2 gene causing Neutral Lipid Storage Disease with Myopathy (NLSDM). The report details the clinical presentation, MRI findings, muscle biopsy, and functional validation of the variant in a 57-year-old Moroccan patient. The document was last updated on 2026-05-25 and is shared under a CC-BY-4.0 license.

Use Cases

• Studying genotype-phenotype correlations in NLSDM based on the detailed clinical and molecular description.
• Bioinformatic analysis of PNPLA2 variants based on the reported novel frameshift mutation and protein modeling predictions.
• Comparative analysis of diagnostic findings in lipid storage diseases based on described techniques like muscle MRI, biopsy, and blood smear.
• Expanding the known phenotypic spectrum of NLSDM based on the reported case of a patient with diabetes, hearing loss, cataracts, and cardiomyopathy.

Strengths

• Includes functional validation via Western blotting, confirming the truncating effect of the novel variant.
• Provides a detailed multi-modal clinical description, including whole-body muscle MRI findings and histopathology.
• The data is shared under a permissive CC-BY-4.0 license.

Limitations

• Description metadata is limited; actual data quality requires manual inspection after download.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report (79.4 KB), representing a very limited sample size.

Provenance

Source

Elena Faedo via figshare.

Collection Method

Clinical case investigation involving next-generation sequencing, bioinformatics modeling, and laboratory validation.

Freshness

Last updated 2026-05-25 22:03:41; freshness should be verified.

Geography

Patient is from Morocco.