A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures
<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.
Authors
- Minal Pande
- Udhaya Kotecha (ORCID: https://orcid.org/0000-0001-5648-4751)
- Paresh Vyas (ORCID: https://orcid.org/0000-0003-3931-0914)
- Kishore K Katam (ORCID: https://orcid.org/0000-0002-9872-2022)
- Shinjan Patra (ORCID: https://orcid.org/0000-0003-1527-2722)
- S. Jena (ORCID: https://orcid.org/0000-0002-3077-0714)
- Ketki Kedar
- Ashka Prajapti
Institutions
- Government Medical College (IN)
- Nagpur Institute of Technology (IN)
- Hardik Fintrade (India) (IN)
- Central India Institute of Medical Sciences (IN)
- All India Institute of Medical Sciences, Nagpur (IN)
- KIIT University (IN)
Publication Details
- Journal
- Bone Reports
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1016/j.bonr.2025.101833
- Citations
- 3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 5.45