title: TFAP2B mutation and dental anomalies.
abstract: Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5.6%), 1 patient with PDA and severe valvular aortic stenosis and tooth agenesis (1/4) and 2 normal controls (2/100; 1%). The mutation is predicted to cause an amino-acid substitution p.Val336Ile in the TFAP2B protein. Tfap2b expression during early mouse tooth development supports the association of TFAP2B mutation and dental anomalies. It is hypothesized that this incidence might have been the result of founder effect. Here we report for the first time that TFAP2B mutation is associated with tooth agenesis, microdontia, supernumerary tooth and root maldevelopment. In addition, we also found that TFAP2B mutations, the common causes of PDA in Caucasian, are not the common cause of PDA in Thai population.
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Natchaya
authors.initials: N
authors.lastname: Tanasubsinn
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Rekwan
authors.initials: R
authors.lastname: Sittiwangkul
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Yupada
authors.initials: Y
authors.lastname: Pongprot
authors.affiliation: Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Katsushige
authors.initials: K
authors.lastname: Kawasaki
authors.affiliation: Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ohazama
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Thanapat
authors.initials: T
authors.lastname: Sastraruji
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Massupa
authors.initials: M
authors.lastname: Kaewgahya
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.|DENTALAND CLINIC, Chiang Mai, Thailand.
authors.forename: Piranit Nik
authors.initials: PN
authors.lastname: Kantaputra
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D004374:Ductus Arteriosus, Patent / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree; D013785:Thailand / Q000453:epidemiology; D014071:Tooth Abnormalities / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D050656:Transcription Factor AP-2 / Q000235:genetics*; D055815:Young Adult
chemical_list: C493677:TFAP2B protein, human; D050656:Transcription Factor AP-2