Impaired <scp> <i>SERPINF1</i> </scp> Expression due to c.[‐ <scp>37C</scp> >A];[829_831del] Causes Osteogenesis Imperfecta <scp>VI</scp>
Osteogenesis imperfecta type VI is a rare genetic disorder caused by biallelic disease-causing variants in SERPINF1. The phenotype is characterized by severe osteopenia, recurrent fractures, and moderate to severe skeletal deformities. We report an 11-year-old individual who presented with multiple fractures of the long bones of the upper and lower extremities, severe osteopenia, and skeletal deformities. Whole exome sequencing revealed compound heterozygous variants c.[-37C>A];[829_831del] in SERPINF1. To determine the functional consequence of the variants, quantitative real-time PCR and immunoblotting analyses in patient-derived fibroblasts were performed, which showed reduced expression of SERPINF1 transcript and protein levels.
Authors
- Periyasamy Radhakrishnan (ORCID: https://orcid.org/0000-0002-7690-3201)
- Sheela Nampoothiri (ORCID: https://orcid.org/0000-0002-9575-0722)
- Purvi Majethia (ORCID: https://orcid.org/0000-0002-2364-4111)
- Vaishnavi Ashok Badiger
- Anju Shukla (ORCID: https://orcid.org/0000-0002-8347-429X)
- Meher Mounika Vangara
Institutions
- Amrita Institute of Medical Sciences and Research Centre (IN)
- Manipal Academy of Higher Education (IN)
- University of Basel (CH)
- University Hospital of Basel (CH)
- Sultan Qaboos University (OM)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1002/ajmga.70020
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00