Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review
N-terminal in-frame COL1A2 deletions show variable expressivity, including perinatal lethality. We report a novel, complex and likely unstable genomic rearrangement which probably predisposed to a secondary, larger deletion. Integrated CNV analysis and parental studies are crucial to ensure accurate recurrence risk counselling.
Authors
- Fabiana Pinheiro Ramos (ORCID: https://orcid.org/0000-0002-2233-0305)
- Karen Elise Heath (ORCID: https://orcid.org/0000-0002-5816-7044)
- Sofia C. Franco (ORCID: https://orcid.org/0000-0002-6463-0971)
- Raquel Pina
- Sérgio Bernardo Sousa
- Pedro M. Almeida
- Silvia Modamio-Hoybjor
- Rita Cerqueira
- Daniela Oliveira
Institutions
- Hospital Universitario La Paz (ES)
- Hospitais da Universidade de Coimbra (PT)
- Centro de Genética Clínica (PT)
- Escola Superior de Tecnologia da Saúde de Coimbra (PT)
- Universidad Autónoma de Madrid (ES)
- University of Coimbra (PT)
Publication Details
- Journal
- Bone
- Published
- 2026-01-29
- DOI
- https://doi.org/10.1016/j.bone.2026.117810
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00