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Article

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.

The Journal of clinical endocrinology and metabolism - 18 Dec 2025

Anum, Li Xilong, Garg Abhimanyu

Abstract excerpt

CONTEXT: Familial partial lipodystrophy, type 2 (FPLD2) or the Dunnigan variety, is a rare, autosomal dominant disorder characterized by selective loss of subcutaneous fat from the extremities and is caused by over 50 heterozygous missense LMNA variants. However, some patients with FPLD2 do not harbor the known pathogenic LMNA variants and there are only limited genotype-phenotype segregation data for a few other...

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Share to Genetic Association Studies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40367289
DOI: 10.1210/clinem/dgaf279
PMCID: PMC12712948

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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