Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining
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.
Authors
- Yasuhisa Ohata (ORCID: https://orcid.org/0000-0001-6084-6620)
- Ikumi Ueda
- T Shimada
- Yasuji Kitabatake (ORCID: https://orcid.org/0000-0002-2907-9512)
- Takeshi Ishimi
- Kenichi Yamamoto
- Hirofumi Nakayama (ORCID: https://orcid.org/0009-0009-5142-6822)
- Chieko Yamada
- Masaya Hattori
- Yusaku Ito
- Takuo Kubota
- Yukako Nakano
- Makoto Fujiwara
Institutions
- Osaka Women's and Children's Hospital (JP)
- Museum of Japanese Art Yamato Bunkakan (JP)
- The University of Osaka (JP)
Publication Details
- Journal
- Bone Reports
- Published
- 2026-01-26
- DOI
- https://doi.org/10.1016/j.bonr.2026.101901
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00