A Frameshift Mutation causes Dentinogenesis Imperfecta Type II (상아질 형성부전증 제 II 형의 원인이 되는 Frameshift 돌연변이)

홍지원; Shin Teo Jeon (신터전); Hong-Keun Hyun (현홍근); Kim, Young J (김영재); Sang-Hoon Lee (이상훈); Kim, JungWook (김정욱)

doi:10.5933/JKAPD.2017.44.2.164

A Frameshift Mutation causes Dentinogenesis Imperfecta Type II

Journal of the Korean academy of pediatric dentistry
Abbr : J Korean Acad Pediatr Dent
2017, 44(2), pp.164~169
DOI : 10.5933/JKAPD.2017.44.2.164
Publisher : The Korean Academy Of Pediatric Dentistry
Research Area : Medicine and Pharmacy > Dentistry

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.

KEYWORDS

Dentinogenesis imperfecta, Dentin sialophosphoprotein, Dentin phosphoprotein, Frameshift mutation

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Journal of the Korean academy of pediatric dentistry 2025 KCI Impact Factor : 0.43

A Frameshift Mutation causes Dentinogenesis Imperfecta Type II

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Journal of the Korean academy of pediatric dentistry 2025 KCI Impact Factor : 0.43

A Frameshift Mutation causes Dentinogenesis Imperfecta Type II

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