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STAG1 Disease, Central Precocious Puberty, and Bone Fragility-A Case Report
Rebecca-Cristiana Șerban1, Andreea-Mădălina Mituț-Velișcu2, Andrei Costache3
1Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Diagnostics (Basel, Switzerland)
|May 14, 2025
Summary
STAG1 gene variants cause cohesinopathies with intellectual disability. This case highlights unexplained central precocious puberty and bone fragility, expanding the known STAG1-related cohesinopathy spectrum.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Medicine
Background:
- Cohesinopathies are genetic disorders affecting cell division and DNA repair.
- STAG1 gene mutations are linked to cohesinopathies with intellectual disability, facial dysmorphisms, and limb anomalies.
Observation:
- An 8-year-old girl presented with intellectual disability, central precocious puberty (CPP), and bone fragility.
- Genetic testing identified a pathogenic STAG1 variant (NM_005862.3:c.2116del p.(Asp706Ilefs*15)).
Findings:
- The identified STAG1 variant partially explained the patient's phenotype.
- The etiology of CPP and bone fragility in this STAG1-related cohesinopathy remains unclear.
- This case underscores the complexity of STAG1-related disorders and the limitations of current genetic diagnostics.
Implications:
- The clinical spectrum of STAG1-related cohesinopathies is broader than previously recognized.
- Complex phenotypes with seemingly unrelated features challenge molecular diagnostic approaches.
- Further research is needed to fully understand STAG1 gene function and associated cohesinopathies.
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