Osteogenesis Imperfecta with a gross deletion including the <i>COL1A1</i> gene, induced by Alu-driven microhomology-mediated end joining.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 41660581.
- Also identified by DOI 10.1016/j.bonr.2026.101901 and PMC identifier 12878673.
- Licence recorded as CC BY-NC.
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Abstract
Osteogenesis Imperfecta (OI) is a rare hereditary brittle bone disorder typically caused by <i>COL1A1</i> and <i>COL1A2</i> variants impairing type I collagen. However, gross deletions involving <i>COL1A1</i> are uncommon. Here, we report a family with type I OI harboring a 101-kbp deletion encompassing <i>COL1A1</i>, identified through whole genome analysis. Affected individuals presented mild phenotypes. Breakpoint analysis revealed a 5-bp microhomology-mediated end joining involving an Alu element. This report expands the understanding of genetic mechanisms underlying OI.