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

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...

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Published in:Journal of personalized medicine 2022-06, Vol.12 (6), p.1002
Main Authors: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Bayrak, Sule, Tuloglu, Nuray, Simmer, James P, Hu, Jan C-C, Kim, Jung-Wook
Format: Article
Language:English
Subjects:
Dentin
Dentinogenesis
Dentinogenesis imperfecta
Disease
Dspp protein
Dysplasia
Enamel
Gene expression
Genetic disorders
Genomes
Mutagenesis
Mutation
Phenotypes
Precision medicine
Teeth
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cited_by cdi_FETCH-LOGICAL-c409t-eaf2e10595506e563b2213611a5d7582b0b0d49ec1b7ceee9aabd51215a340dc3
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container_issue 6
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container_title Journal of personalized medicine
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creator Kim, Youn Jung
Lee, Yejin
Zhang, Hong
Seymen, Figen
Koruyucu, Mine
Bayrak, Sule
Tuloglu, Nuray
Simmer, James P
Hu, Jan C-C
Kim, Jung-Wook
description 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.(Gln45=)) 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.
doi_str_mv 10.3390/jpm12061002
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subjects Dentin
Dentinogenesis
Dentinogenesis imperfecta
Disease
Dspp protein
Dysplasia
Enamel
Gene expression
Genetic disorders
Genomes
Mutagenesis
Mutation
Phenotypes
Precision medicine
Teeth
title Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects
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