Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report.

Introduction Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. Patient concerns A 57-year-old woman office worker was admitted because of severe, long-lasting pain in the thoracic spine while bending down. She and her daughter have a history of multiple atraumatic fractures form early childhood. Diagnosis Both women were pre-diagnosed with OI based on their phenotype. The genetic testing has shown single nucleotide polymorphism (rs193922155) in the gene encoding the collagen type I alpha 1 which until now was only likely pathogenic. Interventions Bone mineral density measurement revealed osteoporosis. The mother was prescribed with Vitamin D3 and calcium supplementation, but the daughter does not take any medication. The mother had vertebroplasty performed because of Th 9-12 vertebral body compression fractures. The cardiovascular diseases, spontaneous hematomas, joint dislocations were excluded. Outcomes For mother postoperative pain reduction was achieved. Conclusion To the best of our knowledge, this is the first publication that confirms the pathogenic effect of this mutation and describes the phenotype.