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


ABSTRACT: BACKGROUND: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 performed with Sanger sequencing. RESULTS:Results showed that 56.16% of the OI cases were caused by de novo pathogenic 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 promote the further understanding of OI etiology, and assist with diagnostics procedures, as well as with family planning.

SUBMITTER: Zhytnik L 

PROVIDER: S-EPMC6418448 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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

Zhytnik Lidiia L   Maasalu Katre K   Duy Binh Ho BH   Pashenko Andrey A   Khmyzov Sergey S   Reimann Ene E   Prans Ele E   Kõks Sulev S   Märtson Aare A  

Molecular genetics & genomic medicine 20190124 3


<h4>Background</h4>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.<h4>Methods</h4>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 performed with Sanger sequen  ...[more]

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