Genetic diagnosis for osteogenesis imperfecta:
abridged secondary publication
B Gao1, MKT To2, D Chan3, YQ Song3
1 School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
2 Department of Orthopaedics and Traumatology, The University of Hong Kong/The University of Hong Kong-Shenzhen Hospital, Shenzhen, China
3 School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China
- Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder, with an incidence of one in 15 000 to 20 000 newborns.
- Identification of pathogenic mutations and genotype-phenotype correlations in Chinese patients with OI would expand the mutational spectrum of causative genes and enhance our understanding of bone development, enabling optimisation of targeted molecular-based therapies.
- In patients with OI in southern China, variants in COL1A1, COL1A2, IFITM5, FKBP10, WNT1, and P4HB were identified. Correlations between genotype and clinical manifestations were also investigated to improve medical care.