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Date Published: 04/03/2024
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DOI: https://doi.org/10.51298/vmj.v536i1.8719
Issue
Vol. 536 No. 1 (2024)
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Các bài báo
How to Cite
Nguyễn, T. T. H. ., Tống , M. S. ., Trần , V. K. ., & Vũ , C. D. . (2024). ASSOCIATION BETWEEN DENTINOGENESIS IMPERFECTA AND GENE MUTATIONS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA. Vietnam Medical Journal, 536(1). https://doi.org/10.51298/vmj.v536i1.8719

ASSOCIATION BETWEEN DENTINOGENESIS IMPERFECTA AND GENE MUTATIONS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA

Thị Thu Hương Nguyễn, Minh Sơn Tống , Vân Khánh Trần , Chí Dũng Vũ

Main Article Content

Abstract

This study aimed to investigate the association between dentinogenesis imperfecta (DI) and genetic variants among patients with osteogenesis imperfecta (OI). Methods: A cross-sectional descriptive study. This study included 31 children with OI aged 2 to 19 years. Clinical examination and X-ray imaging were used to detect the presence of DI, while genome sequencing was performed to identify gene mutations associated with OI. Results: Variants related to collagen type I encoding genes (COL1A1, COL1A2) accounted for the majority at 86,5%. The prevalence of DI was 38,7%. We found that 13/14 variants in the COL1A1 and COL1A2 genes responsible for DI occurred within the triple helical region. A higher incidence of DI (66,7%) was observed in variants affecting the Gly-X-Y tripeptide. Conclusion: There is a strong association between DI and variants causing glycine substitution. The majority of variants causing DI are predominantly located in the triple helical region.

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References

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