비증후군성 부분 무치증 환자에서 PAX9 유전자 돌연변이
A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia
이예지, 신터전, 현홍근, 김정욱, 이상훈, 김영재,
소속 상세정보
이예지 ( Lee Ye-Ji ) - 서울대학교 치의학대학원 소아치과학교실
신터전 ( Shin Teo-Jeon ) - 서울대학교 치의학대학원 소아치과학교실
현홍근 ( Hyun Hong-Keun ) - 서울대학교 치의학대학원 소아치과학교실
김정욱 ( Kim Jung-Wook ) - 서울대학교 치의학대학원 소아치과학교실
이상훈 ( Lee Sang-Hoon ) - 서울대학교 치의학대학원 소아치과학교실
김영재 ( Kim Young-Jae ) - 서울대학교 치의학대학원 소아치과학교실
KMID : 0358920160430030299
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.
키워드
부분 무치증; PAX9; Nonsense mutation
Oligodontia;PAX9; Nonsense mutation
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