en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کوتاه Short Communication <p><strong>Background: </strong>Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. <strong>Methods: </strong>Molecular genetic analyses were performed for <em>COL1A1</em>, <em>COL1A2</em>, and <em>CRTAP</em> genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. <strong>Results</strong>: Five different variants were identified in <em>COL1A1</em> and <em>COL1A2</em>, including two variants in <em>COL1A1</em> and three variants in <em>COL1A2. </em>Among the five causative <em>COL1A1</em> and <em>COL1A2</em> variants, one novel variants, c.1081 G>A, was found in <em>COL1A2</em>, which was identified in two siblings. <strong>Conclusion:</strong> Our finding extends the variant spectrum of the <em>COL1A2</em> gene and has important implications for genetic counseling of families. The NGS is a powerful molecular diagnostic strategy for OI, a heterogeneous disorder.</p> Collagen type I, COL1A2, Mutation, Osteogenesis imperfecta, Next-generation sequencing 338 341 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-655&slc_lang=en&sid=1 Farah Talebi No Department of Genetic, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran Farideh Ghanbari Mardasi Yes Department of Midwifery, Shoushtar Faculty of Medical Science, Shoushtar, Iran Javad Mohammadi Asl No Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Amir Hooshang Bavarsad No Department of Internal Medicine, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Masoumeh Salehi Kambo No Department of Midwifery, Shoushtar Faculty of Medical Sciences, Shoushtar, Iran