title: Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.
abstract: Tooth agenesis is described as the absence of one or more teeth. It is caused by a failure in tooth development and is one of the most common human developmental anomalies. We herein report genomic analyses of selective mandibular incisor agenesis (SMIA) using exome sequencing. Two Japanese families with SMIA were subjected to exome sequencing, and family with sequence similarity 65 member A (FAM65), nuclear factor of activated T-cells 3 (NFATC3) and cadherin-related 23 gene (CDH23) were detected. In the follow-up study, 51 Japanese and 32 Korean sporadic patients with SMIA were subjected to exome analyses, and 18 reported variants inPAX9,AXIN2,EDA,EDAR,WNT10A,BMP2andGREM2and 27 variants ofFAM65,NFATC3andCDH23were found in 38 patients. Our comprehensive genetic study of SMIA will pave the way for a full understanding of the genetic etiology of SMIA and provide targets for treatment.
authors.affiliation: Department of Orthodontics, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Tetsutaro
authors.initials: T
authors.lastname: Yamaguchi
authors.affiliation: Division of Human Genetics, National Institute of Genetics, Shizuoka, Japan; Department of Bioinformatics and Genomics, Graduate School of Medical Sciences, Kanazawa University, Ishikawa, Japan.
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Hosomichi
authors.affiliation: Verde Orthodontic Dental Clinic , Tokyo, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Yano
authors.affiliation: Department of Orthodontics, School of Dentistry, Pusan National University , Busan, South Korea.
authors.forename: Yong-Il
authors.initials: YI
authors.lastname: Kim
authors.affiliation: Division of Human Genetics, National Institute of Genetics , Shizuoka, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Nakaoka
authors.affiliation: Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus , Okinawa, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Kimura
authors.affiliation: Department of Oral Anatomy and Developmental Biology, Showa University School of Dentistry , Tokyo, Japan.
authors.forename: Hirotada
authors.initials: H
authors.lastname: Otsuka
authors.affiliation: Department of Oral Anatomy and Developmental Biology, Showa University School of Dentistry , Tokyo, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Nonaka
authors.affiliation: Department of Orthodontics, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Shugo
authors.initials: S
authors.lastname: Haga
authors.affiliation: Department of Orthodontics, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Takahashi
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Shirota
authors.affiliation: Mammalian Genetics Project, Tokyo Metropolitan Institute of Medical Science , Tokyo, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kikkawa
authors.affiliation: Department of Biochemistry, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Yamada
authors.affiliation: Department of Biochemistry, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Kamijo
authors.affiliation: Department of Orthodontics, School of Dentistry, Pusan National University , Busan, South Korea.
authors.forename: Soo-Byung
authors.initials: SB
authors.lastname: Park
authors.affiliation: Department of Oral Anatomy and Developmental Biology, Showa University School of Dentistry , Tokyo, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: Department of Orthodontics, School of Dentistry, Showa University , Tokyo, Japan.
authors.forename: Koutaro
authors.initials: K
authors.lastname: Maki
authors.affiliation: Division of Human Genetics, National Institute of Genetics , Shizuoka, Japan.
authors.forename: Ituro
authors.initials: I
authors.lastname: Inoue