Open AccessRole of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype
Author(s) -
Janusz Płomiński,
Marek L. Szwabowicz,
Ewa Fiedorowicz,
Roman Grzybowski,
Maria Latacz,
Anna Ciéslińska
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000027021
Subject(s) - medicine , osteogenesis imperfecta , daughter , phenotype , osteoporosis , bone mineral , ehlers–danlos syndrome , pediatrics , bioinformatics , genetics , gene , surgery , pathology , evolutionary biology , biology
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.