@article{ART002225300},
author={홍지원 and Teo Jeon Shin and Hong-Keun Hyun and Young-Jae Kim and Sang-Hoon Lee and Jung-Wook Kim},
title={A Frameshift Mutation causes Dentinogenesis Imperfecta Type II},
journal={Journal of the Korean academy of pediatric dentistry},
issn={1226-8496},
year={2017},
volume={44},
number={2},
pages={164-169},
doi={10.5933/JKAPD.2017.44.2.164}
TY - JOUR
AU - 홍지원
AU - Teo Jeon Shin
AU - Hong-Keun Hyun
AU - Young-Jae Kim
AU - Sang-Hoon Lee
AU - Jung-Wook Kim
TI - A Frameshift Mutation causes Dentinogenesis Imperfecta Type II
JO - Journal of the Korean academy of pediatric dentistry
PY - 2017
VL - 44
IS - 2
PB - The Korean Academy Of Pediatric Dentistry
SP - 164
EP - 169
SN - 1226-8496
AB - 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.
KW - Dentinogenesis imperfecta;Dentin sialophosphoprotein;Dentin phosphoprotein;Frameshift mutation
DO - 10.5933/JKAPD.2017.44.2.164
ER -
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee and Jung-Wook Kim. (2017). A Frameshift Mutation causes Dentinogenesis Imperfecta Type II. Journal of the Korean academy of pediatric dentistry, 44(2), 164-169.
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee and Jung-Wook Kim. 2017, "A Frameshift Mutation causes Dentinogenesis Imperfecta Type II", Journal of the Korean academy of pediatric dentistry, vol.44, no.2 pp.164-169. Available from: doi:10.5933/JKAPD.2017.44.2.164
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Jung-Wook Kim "A Frameshift Mutation causes Dentinogenesis Imperfecta Type II" Journal of the Korean academy of pediatric dentistry 44.2 pp.164-169 (2017) : 164.
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Jung-Wook Kim. A Frameshift Mutation causes Dentinogenesis Imperfecta Type II. 2017; 44(2), 164-169. Available from: doi:10.5933/JKAPD.2017.44.2.164
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee and Jung-Wook Kim. "A Frameshift Mutation causes Dentinogenesis Imperfecta Type II" Journal of the Korean academy of pediatric dentistry 44, no.2 (2017) : 164-169.doi: 10.5933/JKAPD.2017.44.2.164
홍지원; Teo Jeon Shin; Hong-Keun Hyun; Young-Jae Kim; Sang-Hoon Lee; Jung-Wook Kim. A Frameshift Mutation causes Dentinogenesis Imperfecta Type II. Journal of the Korean academy of pediatric dentistry, 44(2), 164-169. doi: 10.5933/JKAPD.2017.44.2.164
홍지원; Teo Jeon Shin; Hong-Keun Hyun; Young-Jae Kim; Sang-Hoon Lee; Jung-Wook Kim. A Frameshift Mutation causes Dentinogenesis Imperfecta Type II. Journal of the Korean academy of pediatric dentistry. 2017; 44(2) 164-169. doi: 10.5933/JKAPD.2017.44.2.164
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Jung-Wook Kim. A Frameshift Mutation causes Dentinogenesis Imperfecta Type II. 2017; 44(2), 164-169. Available from: doi:10.5933/JKAPD.2017.44.2.164
홍지원, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee and Jung-Wook Kim. "A Frameshift Mutation causes Dentinogenesis Imperfecta Type II" Journal of the Korean academy of pediatric dentistry 44, no.2 (2017) : 164-169.doi: 10.5933/JKAPD.2017.44.2.164