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KMID : 0358920170440020164
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Journal of the Korean Academy of Pedodontics
2017 Volume.44 No. 2 p.164 ~ p.169
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A Frameshift Mutation causes Dentinogenesis Imperfecta Type II
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Hong Ji-won
Shin Teo-Jeon
Hyun Hong-Keun
Kim Young-Jae
Lee Sang-Hoon
Kim Jung-Wook
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Abstract
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Dentinogenesis imperfecta type II (DGI-II) is an inherited disorder affecting the dentin matrix and is related to mutations in the dentin sialophosphoprotein (DSPP) gene. The protein encoded by the DSPP gene undergoes extensive posttranslational modifications. Dentin phosphoprotein (DPP), one of the DSPP expressed products, has unique composition with highly repetitive Asp-Ser-Ser amino acid residues and is related to the maturation of dentin mineralization. We aimed to identify mutation in DSPP, including the DPP coding region, contributing to inherited dentin defects in a Korean family with DGI-II. Clinical and radiographic examinations were performed, and all five exons and exon-intron boundaries of the DSPP gene were sequenced. Additionally, allele-specific cloning for highly repetitive DPP region was performed. By sequencing and cloning, a heterozygous single nucleotide deletion (c.2688delT) was identified. The identified mutation caused a frameshift in the DPP coding region. This frameshift mutation would introduce hydrophobic amino acids instead of hydrophilic amino acids and would result in a change in the characteristics of DPP.
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KEYWORD
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Dentinogenesis imperfecta , Dentin sialophosphoprotein , Dentin phosphoprotein , Frameshift mutation
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