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Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the ACVR2A Gene

Authors
 Chan-Woo Jo  ;  Ji Hyun Lee  ;  Je Seon Song  ;  Min Kyoung Park  ;  Sung-Won Cho  ;  Jae-Hoon Lee  ;  Hyo-Seol Lee 
Citation
 PEDIATRIC DENTISTRY, Vol.43(1) : 39-43, 2021-01 
Journal Title
PEDIATRIC DENTISTRY
ISSN
 0164-1263 
Issue Date
2021-01
MeSH
High-Throughput Nucleotide Sequencing* ; Humans ; Tooth, Supernumerary* / genetics
Abstract
Purpose: The purpose of this study was to use targeted next-generation sequencing (NGS) to identify possible causative genes for isolated and sporadic human mesiodens. Methods: The targeted panel consisted of 101 target genes related to tooth development. NGS of this panel was initially performed on a discovery set (39 cases and 27 controls); association tests were performed after genotyping of nine selected variants in a validation set (57 cases and 56 controls). Results: Among these nine variants, a synonymous variant, ACVR2A (rs1128919) associated with mesiodens was identified. Moreover, in silico analysis was performed and demonstrated the instability of mRNA with the G allele. Conclusions: The formation of isolated and sporadic human mesiodens is associated with a synonymous variation in ACVR2A (rs1128919).
Full Text
https://www.ingentaconnect.com/content/aapd/pd/2021/00000043/00000001/art00009;jsessionid=1i2am1lqrlls4.x-ic-live-02
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Pediatric Dentistry (소아치과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Prosthodontics (보철과학교실) > 1. Journal Papers
Yonsei Authors
Song, Je Seon(송제선) ORCID logo https://orcid.org/0000-0001-8620-5629
Lee, Jae Hoon(이재훈) ORCID logo https://orcid.org/0000-0003-2281-8885
Cho, Sung Won(조성원) ORCID logo https://orcid.org/0000-0001-7505-9769
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/184783
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