본문 바로가기
  • Home

A Frameshift Mutation causes Dentinogenesis Imperfecta Type II

홍지원 1 Shin Teo Jeon 1 Hong-Keun Hyun 1 Kim, Young J 1 Sang-Hoon Lee 1 Kim, JungWook 1

1서울대학교

Accredited

ABSTRACT

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.

Citation status

* References for papers published after 2022 are currently being built.