Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling
Authors' conclusion
Severe growth retardation, IGF-1 resistance, and centripetal fat repartition associated with insulin resistance-related metabolic abnormalities should be considered as typical features of SOFT syndrome caused by biallelic POC1A null variants. Adipocyte dysfunction and cellular senescence likely contribute to the metabolic consequences of POC1A deficiency. SOFT syndrome should be included within the group of monogenic ciliopathies with metabolic and adipose tissue involvement, which already encompasses Bardet-Biedl and Alström syndromes.
Study context
- Population
- 2 unrelated patients with SOFT syndrome carrying biallelic pathogenic POC1A variants; patients' fibroblasts and POC1A-deleted human adipose stem cells
- Participants
- 2 unrelated patients
- Outcome
- Clinical, metabolic and cellular features of POC1A deficiency
Methodological detailscellular modeling
- Cellular modeling
Main finding
As reported in the abstract
- Both patients: clinical features of SOFT syndrome with hyperinsulinemia, diabetes or glucose intolerance, hypertriglyceridemia, liver steatosis and central fat distribution
- Both patients: resistance to the effects of IGF-1
- Lack of POC1A impairs ciliogenesis and adipocyte differentiation, induces cellular senescence and leads to resistance to insulin and IGF-1
- Altered subcellular localization of insulin receptors and, to a lesser extent, IGF1 receptors could contribute to insulin and IGF1 resistance
Original publication
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling. Eur J Endocrinol. Published 20 January 2024. doi:10.
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