Abstract
Current problems and some future perspectives of molecular genetic study of connective tissue diseases (CTDs) are reviewed. The corresponding clinical manifestation and mode of heritable disorders of connective tissue (HDCT) inheritance are subdivided into inherited, mostly monogenic, forms and mixed or multifactorial dysplasia of connective tissue (MDCTs). Both forms, especially MDCT, pose significant problems for precise clinical diagnostics. Implementation of modern DNA technologies includes new generation sequencing and clinical exome sequencing which provided a substantial impact in understanding the complex molecular genetic background of CTDs. Owing to new technologies, hundreds of new causative genes of CTDs were found and many commercial gene panels were designed for more precise and objective diagnostics of different CTDs. The results of implementation of NGS for analysis of both HDCTs and especially MDCTs complicated with common syntropic diseases as well as some new data on epigenetic causes of CTDs are briefly summarized. Special attention is paid to biological models and cell culture technologies complemented results of NGS in CTDs. Obvious advantages, relevant problems, and definite limitations in clinical implication of NGS for CTDs studies are discussed.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
