title: Novel mutation of the initiation codon of PAX9 causes oligodontia.
abstract: Tooth development is under strict genetic control. Oligodontia is defined as the congenital absence of 6 or more permanent teeth, excluding the third molar. The occurrence of non-syndromic oligodontia is poorly understood, but in recent years several cases have been described where a single gene mutation is associated with oligodontia. Several studies have shown that MSX1 and PAX9 play a role in early tooth development. We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. The pedigree showed an autosomal-dominant pattern of inheritance. Direct sequencing and restriction enzyme analysis revealed a novel heterozygous A to G transition mutation in the AUG initiation codon of PAX9 in exon 1 in the affected members of the family. This is the first mutation found in the initiation codon of PAX9, and we suggest that it causes haploinsufficiency.
authors.affiliation: Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK- 2200 Copenhagen, Denmark. mette_klein@mail.dk
authors.forename: M L
authors.initials: ML
authors.lastname: Klein
authors.forename: P
authors.initials: P
authors.lastname: Nieminen
authors.forename: L
authors.initials: L
authors.lastname: Lammi
authors.forename: E
authors.initials: E
authors.lastname: Niebuhr
authors.forename: S
authors.initials: S
authors.lastname: Kreiborg
mesh_terms: D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000235:genetics*; D018387:Codon, Initiator / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051957:MSX1 Transcription Factor; D008297:Male; D051764:PAX9 Transcription Factor; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D014157:Transcription Factors