Translated mutant DSPP mRNA expression level impacts the severity of dentin defects
Yükleniyor...
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Hereditary dentin defects are conventionally classified into three types of dentinogenesis
imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophospho protein (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.
Açıklama
Anahtar Kelimeler
Hereditary, Splicing Mutation, Dentinogenesis Imperfecta, Dentin Sialophosphoprotein, DSPP, Silent Mutation, Genotype−Phenotype Relationship
Kaynak
Journal of Personalized Medicine
WoS Q Değeri
Q1
Scopus Q Değeri
Q2
Cilt
12
Sayı
6
Künye
Kim, Y. J., Lee, Y., Zhang, H., Seymen, F., Koruyucu, M., Bayrak, Ş., Tüloğlu, N., Simmer, J. P., Hu, Jan C-C., Kim, J. W. (2022). Translated mutant DSPP mRNA expression level impacts the severity of dentin defects. Journal of Personalized Medicine, 12(6), 1002.
