4.7 Article

Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects

期刊

JOURNAL OF PERSONALIZED MEDICINE
卷 12, 期 6, 页码 -

出版社

MDPI
DOI: 10.3390/jpm12061002

关键词

hereditary; splicing mutation; dentinogenesis imperfecta; dentin sialophosphoprotein; DSPP; silent mutation; genotype-phenotype relationship

资金

  1. National Research Foundation of Korea (NRF) - Korean government (MEST) [NRF-2018R1A5A2024418, NRF-2020R1A2C2100543]
  2. NIDCR/NIH [R01DE027675]

向作者/读者索取更多资源

This study identified three novel mutations associated with hereditary dentin defects and expanded the mutational spectrum of the DSPP gene. The study also found that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of dentin defects, advancing our understanding of the molecular pathogenesis of this condition.
Hereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophosphoprotein (DSPP) gene have been identified to cause DGI type II and III and DD type II; therefore, these are not three different conditions, but rather allelic disorders. In this study, we recruited three families with varying clinical phenotypes from DGI-III to DD-II and performed mutational analysis by candidate gene analysis or whole-exome sequencing. Three novel mutations including a silent mutation (NM 014208.3: c.52-2del, c.135+1G>C, and c.135G>A; p.(G1n45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of the dentin defects. This study did not only expand the mutational spectrum of DSPP gene, but also advanced our understanding of the molecular pathogenesis impacting the severity of hereditary dentin defects.

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