본문 바로가기
  • Home

A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia

이예지 1 Shin Teo Jeon 2 Hong-Keun Hyun 2 Kim, JungWook 2 Sang-Hoon Lee 2 Kim, Young J 2

1서울대학교 치의학대학원 소아치과학교실
2서울대학교

Accredited

ABSTRACT

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.

Citation status

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