Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy
Authors' conclusion
Our data provide further supporting evidence for the pathogenicity of 2 previously reported ultrarare heterozygous LMNA variants, p.N466D and p.K515E. We also report 2 novel variants, p.R582S and p.L241P, in patients with FPLD2. Thus, our study broadens the spectrum of pathogenic/likely pathogenic LMNA variants in FPLD2.
Study context
- Population
- Affected and unaffected subjects from 4 unrelated families with female probands presenting with FPLD2 phenotype4 families
- Outcome
- Clinical phenotype, skinfold thickness, regional body fat by DXA, metabolic variables, and prevalence of DM and hypertriglyceridemia
Methodological detailsfamily-based, Clinical, anthropometric and laboratory data collected retrospectively
- Family-based
- Clinical, anthropometric and laboratory data collected retrospectively
Main finding
As reported in the abstract
Ultrarare heterozygous LMNA variants found: p.N466D and p.K515E
2
Novel heterozygous LMNA variants found: p.R582S and p.L241P
2
Observational data: associations, not effects.
Original publication
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy. J Clin Endocrinol Metab. Published 14 May 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →