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
 
 
  1. Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder, with an incidence of one in 15 000 to 20 000 newborns.
  2. 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.
  3. 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.