De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta

dc.contributor.authorZhytnik, Lidiia
dc.contributor.authorMaasalu, Katre
dc.contributor.authorDuy, Ho Binh
dc.contributor.authorPashenko, Andrey
dc.contributor.authorKhmyzov, Sergey
dc.contributor.authorReimann, Ene
dc.contributor.authorPrans, Ele
dc.contributor.authorKõks, Sulev
dc.contributor.authorMärtson, Aare
dc.date.accessioned2021-06-01T10:15:24Z
dc.date.available2021-06-01T10:15:24Z
dc.date.issued2019
dc.description.abstractBackground: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated. Methods: A comparative analysis was performed of the genotypes and phenotypes of 146 unrelated inherited and de novo collagen I OI cases from Estonia, Ukraine, and Vietnam. Mutational analysis of the subjects and all available parents were per formed with Sanger sequencing. Results: Results showed that 56.16% of the OI cases were caused by de novo patho genic variants. The proportion of OI types OI1, OI4, and OI3 among subjects with inherited OI was 45.31%, 46.88%, and 7.81%, respectively. Among subjects with de novo OI, the proportions of OI types (OI1, OI4, and OI3) were almost equal. Both inherited and de novo OI pathogenic variants occurred more often in the COL1A1 gene than in the COL1A2. The majority of de novo cases were missense pathogenic variants, whereas inherited OI was mostly caused by loss of function pathogenic variants. Conclusion: In summary, there were significant differences between the phenotypes and genotypes of subjects with de novo and inherited OI. These findings may pro mote the further understanding of OI etiology, and assist with diagnostics proce dures, as well as with family planninet
dc.identifier.urihttp://hdl.handle.net/10062/72141
dc.publisherWiley Periodicals, Inc.et
dc.relationinfo:eu-repo/grantAgreement/EC/H2020/668989///TransGenoet
dc.relation.ispartofseriesMolecular Genetics & Genomic Medicine;7
dc.rightsinfo:eu-repo/semantics/openAccesset
dc.subjectbone fragility, collagen, de novo, osteogenesis imperfecta, Sanger sequencinget
dc.titleDe novo and inherited pathogenic variants in collagen-related osteogenesis imperfectaet
dc.typeinfo:eu-repo/semantics/articleet

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