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

A Moroccan patient case report describing a novel homozygous frameshift variant in the PNPLA2 gene causing Neutral Lipid Storage Disease with Myopathy (NLSDM). The dataset includes clinical, imaging, and molecular validation data from a single patient, authored by Elena Faedo and published on figshare in May 2026. Fewer than 150 cases of this ultra-rare disorder have been reported worldwide.

Use Cases

• Study genotype-phenotype correlations in NLSDM based on the detailed clinical presentation described.
• Analyze the structural impact of novel PNPLA2 variants based on the bioinformatics protein modeling results mentioned.
• Validate genetic findings with functional assays based on the Western blotting data from patient-derived tissue.
• Compare clinical features across reported NLSDM cases based on the phenotypic description including diabetes, cardiomyopathy, and muscle weakness.

Strengths

• Includes multi-modal patient data: clinical presentation, muscle MRI, biopsy, genetic sequencing, and protein validation.
• Documents a novel genetic variant (c.1043del, p.Phe348SerfsTer18) with functional validation.
• Published under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is from a single patient case, limiting statistical power and generalizability.

Provenance

Source

figshare, authored by Elena Faedo.

Collection Method

Clinical case study involving patient examination, imaging, biopsy, and genetic analysis.

Time Range

Case report from a 57-year-old patient; publication date is 2026.

Freshness

Last updated 2026-05-25 22:03:42; freshness should be verified.

Geography

Patient is from Morocco.