Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.

DEMİR S., YALÇINTEPE S., ATLI E. İ., Sanri A., Yildirim R., TÜTÜNCÜLER F., ...More

Genetic testing and molecular biomarkers, vol.25, no.1, pp.59-67, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1089/gtmb.2020.0169
  • Journal Name: Genetic testing and molecular biomarkers
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.59-67
  • Keywords: osteogenesis imperfecta, novel mutation, HTS, MUTATION, VARIANTS, GENE, GENOMICS, DATABASE, GLYCINE, 5'-UTR, COL1A1
  • Bursa Uludag University Affiliated: Yes


Objective: Osteogenesis imperfecta (OI) includes a group of disorders characterized by susceptibility to bone fractures with different severities. The increasing number of genes that may underlie the disorder, along with the broad phenotypic spectrum that overlaps with other skeletal diseases, provided a compelling case for the use of high-throughput sequencing (HTS) technology as an aid to OI diagnoses. The aim of this analysis was to present the data from our 5-year targeted HTS results, that includes the reporting of 9 novel and 24 known mutations, found in OI patients, from 5 different regions of Turkey.