title: Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.
abstract: OBJECTIVE
  Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population.
  
  
  METHODS
  The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI).
  
  
  RESULTS
  We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study.
  
  
  CONCLUSIONS
  In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.
authors.affiliation: Laboratory of DNA Diagnostic, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic.
authors.forename: Alena
authors.initials: A
authors.lastname: Hlousková
authors.affiliation: Laboratory of DNA Diagnostic, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Bonczek
authors.affiliation: Clinic of Stomatology, Faculty of Medicine, Masaryk University, Brno and St. Anne's University Hospital in Brno, Czech Republic.
authors.forename: Lydie
authors.initials: L
authors.lastname: Izakovicová-Hollá
authors.affiliation: Laboratory of DNA Diagnostic, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Lochman
authors.affiliation: Clinic of Stomatology, Faculty of Medicine, Masaryk University, Brno and St. Anne's University Hospital in Brno, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Soukalová
authors.affiliation: Laboratory of Animal Embryology, Institute of Animal Physiology and Genetics, v.v.i., The Academy of Sciences of the Czech Republic, Brno, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Stembírek
authors.affiliation: Laboratory of Animal Embryology, Institute of Animal Physiology and Genetics, v.v.i., The Academy of Sciences of the Czech Republic, Brno, Czech Republic.
authors.forename: Ivan
authors.initials: I
authors.lastname: Mísek
authors.affiliation: Clinic of Stomatology, Faculty of Medicine, Masaryk University, Brno and St. Anne's University Hospital in Brno, Czech Republic.
authors.forename: Pavlína
authors.initials: P
authors.lastname: Cernochová
authors.affiliation: Clinic of Dental Medicine, Medical Faculty, Palacký University Olomouc, Czech Republic.
authors.forename: Premysl
authors.initials: P
authors.lastname: Krejcí
authors.affiliation: Clinic of Stomatology, Faculty of Medicine, Masaryk University, Brno and St. Anne's University Hospital in Brno, Czech Republic.
authors.forename: Jirí
authors.initials: J
authors.lastname: Vanek
authors.affiliation: Laboratory of DNA Diagnostic, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic.
authors.forename: Omar
authors.initials: O
authors.lastname: Šerý
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000848:Anodontia / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D018153:Czech Republic; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D051764:PAX9 Transcription Factor / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D044465:White People; D055815:Young Adult
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human