@article{ART002137156},
author={이예지 and Shin Teo Jeon and Hong-Keun Hyun and Kim, JungWook and Sang-Hoon Lee and Kim, Young J},
title={A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia},
journal={Journal of the Korean academy of pediatric dentistry},
issn={1226-8496},
year={2016},
volume={43},
number={3},
pages={299-305},
doi={10.5933/JKAPD.2016.43.3.299}
TY - JOUR
AU - 이예지
AU - Shin Teo Jeon
AU - Hong-Keun Hyun
AU - Kim, JungWook
AU - Sang-Hoon Lee
AU - Kim, Young J
TI - A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia
JO - Journal of the Korean academy of pediatric dentistry
PY - 2016
VL - 43
IS - 3
PB - The Korean Academy Of Pediatric Dentistry
SP - 299
EP - 305
SN - 1226-8496
AB - The aim of this study was to identify the causative genetic mutation in a family with non-syndromic oligodontia.
The 7-year-old female proband and her mother underwent oral examination, panoramic radiographs were obtained and blood samples were collected. All exons of the PAX9 gene were amplified by polymerase chain reaction and sequenced. The sequencing results were compared with the standard human gene sequence. The proband lacked 11 permanent teeth, and her mother lacked 19 permanent teeth. No other birth defects were observed. As a result of gene analysis, there was a novel heterozygous nonsense mutation (c.184G>T, p.Glu62*) in exon 2 in both affected subjects.
It is suspected that the nonsense mutation leads premature termination of translation, yields a truncated protein 280 amino acids shorter than the wild-type protein. These defects include parts of the paired box domain, a DNA-binding site that plays an essential role in protein function. Otherwise, more likely the mutant transcript would be degraded by nonsense-mediated decay system, resulting haploinsufficiency to cause oligodontia in this family.
KW - Oligodontia;PAX9;Nonsense mutation
DO - 10.5933/JKAPD.2016.43.3.299
ER -
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee and Kim, Young J. (2016). A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia. Journal of the Korean academy of pediatric dentistry, 43(3), 299-305.
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee and Kim, Young J. 2016, "A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia", Journal of the Korean academy of pediatric dentistry, vol.43, no.3 pp.299-305. Available from: doi:10.5933/JKAPD.2016.43.3.299
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee, Kim, Young J "A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia" Journal of the Korean academy of pediatric dentistry 43.3 pp.299-305 (2016) : 299.
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee, Kim, Young J. A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia. 2016; 43(3), 299-305. Available from: doi:10.5933/JKAPD.2016.43.3.299
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee and Kim, Young J. "A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia" Journal of the Korean academy of pediatric dentistry 43, no.3 (2016) : 299-305.doi: 10.5933/JKAPD.2016.43.3.299
이예지; Shin Teo Jeon; Hong-Keun Hyun; Kim, JungWook; Sang-Hoon Lee; Kim, Young J. A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia. Journal of the Korean academy of pediatric dentistry, 43(3), 299-305. doi: 10.5933/JKAPD.2016.43.3.299
이예지; Shin Teo Jeon; Hong-Keun Hyun; Kim, JungWook; Sang-Hoon Lee; Kim, Young J. A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia. Journal of the Korean academy of pediatric dentistry. 2016; 43(3) 299-305. doi: 10.5933/JKAPD.2016.43.3.299
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee, Kim, Young J. A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia. 2016; 43(3), 299-305. Available from: doi:10.5933/JKAPD.2016.43.3.299
이예지, Shin Teo Jeon, Hong-Keun Hyun, Kim, JungWook, Sang-Hoon Lee and Kim, Young J. "A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia" Journal of the Korean academy of pediatric dentistry 43, no.3 (2016) : 299-305.doi: 10.5933/JKAPD.2016.43.3.299
