:: ::
Back to the articles list Back to browse issues page
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Farah Talebi , Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Amir Hooshang Bavarsad, Masoumeh Salehi Kambo
Abstract:  

Background: 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. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2. Among the five causative COL1A1 and COL1A2 variants, one novel variants, c.1081 G>A, was found in COL1A2, which was identified in two siblings. Conclusion: Our finding extends the variant spectrum of the COL1A2 gene and has important implications for genetic counseling of families. The NGS is a powerful molecular diagnostic strategy for OI, a heterogeneous disorder.

Keywords: Collagen type I, COL1A2, Mutation, Osteogenesis imperfecta, Next-generation sequencing
Full-Text [PDF 646 kb]      
Type of Study: Short Communication | Subject: Molecular Genetics & Genomics
Add your comments about this article
Your username or email:

Write the security code in the box >



PMID: 28431466


XML     Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Talebi F, Ghanbari Mardasi F, Mohammadi Asl J, Bavarsad A H, Salehi Kambo M. Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta. IBJ. 2017;
URL: http://ibj.pasteur.ac.ir/article-1-2012-en.html
Back to the articles list Back to browse issues page
Persian site map - English site map - Created in 1.073 seconds with 869 queries by yektaweb 3426