Molecular genetics analysis of osteogenesis imperfecta in clinical practice

Osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, representing a continuum ranging fromperinatal lethality through individuals with severe skeletal deformities to nearly asymptomatic individuals with mild predispositionto fractures. Diagnosis of OI is an interdisciplinary task based on family and/or patient history of fractures combined with characteristicphysical fi ndings. Radiographic examination reveals fractures of varying ages and stages of healing, wormian bones, and osteopenia.As there is no defi nitive test for OI, molecular genetic testing by next generation sequencing (NGS) of COL1A1 and COL1A2 andup to 12 other genes is essential to confi rm the genetic background. Therefore, we designed a NGS gene panel comprising 12 genesinvolved in OI or severe osteoporosis. Here we report results in a cohort of 11 apparently sporadic young patients with OI, all off springof unaff ected parents, who were referred to orthopaedic surgery at Sv. Katarina Special Hospital (Zabok/Zagreb, Croatia). Tenof these 11 patients could be classifi ed genetically. Overall, three genes with diff erent percent relating to the whole cohort wereinvolved: COL1A1 (63.6%), COL1A2 (18.18%) and WNT1 (9.09%).Key words: osteogenesis imperfecta; molecular genetics - analysis

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