Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants
Authors' conclusion
Individuals with the heterozygous POLD1 p.Ser605del variant had typical MDPL with more severe phenotype compared to those with missense variants with atypical MDPL.
Study context
- Population
- Patients with lipodystrophy due to POLD1 variants (MDPL syndrome); 14 new patients plus cases reported in the literature14 new patients plus literature cases
- Participants
- 26 vs 15
- Exposure
- POLD1 p.Ser605del vs missense variants
- p.Ser605deln = 26
- Missense variantsn = 15reference
- Outcome
- Phenotypic features
Methodological detailsgenetic sequencing (exome, genome, candidate gene)
- Genetic sequencing (exome, genome, candidate gene)
Main finding
As reported in the abstract
- Missense variants vs p.Ser605del
- prevalence of mandibular hypoplasia 57% vs 100%; P = 0.015
- Missense variants vs p.Ser605del
- prevalence of small mouth 36% vs 100%; P = 0.015
- Missense variants vs p.Ser605del
- prevalence of crowded teeth 44% vs 91%; P = 0.046
- Missense variants vs p.Ser605del
- prevalence of hypogonadism in male patients 0% vs 92%; P = 0.046
Observational data: associations, not effects.
Further findings
Metabolic complications (diabetes, hypertriglyceridemia, hepatic steatosis)
- No differences in prevalence of metabolic complications between the two groups
Original publication
Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants. J Clin Endocrinol Metab. Published 25 February 2026. doi:10.
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