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Article

Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.

The Journal of clinical endocrinology and metabolism - 15 Jul 2026

Hoff Fieke W, Xing Chao, Huang Chun-Yuan, Simha Vinaya, Brown Rebecca J, Garg Abhimanyu

Abstract excerpt

CONTEXT: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare, autosomal dominant disorder due to pathogenic heterozygous variants in POLD1. Clinical features of MDPL vary between patients; however, there is no previously reported genotype-phenotype association. OBJECTIVE: This work reports 14 new patients with lipodystrophy due to POLD1 variants and compares phenotypic...

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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: 41742372
DOI: 10.1210/clinem/dgag079
PMCID: PMC13368362

Genes

POLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.PMID 41742372Read ↗

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