A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 40123745.
- Also identified by DOI 10.1016/j.bonr.2025.101833 and PMC identifier 11930198.
- Licence recorded as CC BY-NC.
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Abstract
<i>SGMS2</i> mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man with a three-generation family history of recurrent fragility fractures and diffuse high bone mass. He was found to have a heterozygous frameshift variant c.1052_1074dup in the SGMS2 gene. Our case highlights a novel genetic mutation in the <i>SGMS2</i> gene and reports the first family of <i>SGMS2</i> mutation with high bone mass.