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 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1089/gtmb.2020.0169
  • Title of Journal : Genetic testing and molecular biomarkers
  • Page Numbers: pp.59-67

Abstract

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.