title: A novel mutation in PAX9 causes familial form of molar oligodontia.
abstract: PAX9 is a paired domain transcription factor that plays a critical role in odontogenesis. All mutations of PAX9 identified to date have been associated with nonsyndromic form of tooth agenesis. The present report describes an unusual novel mutation in PAX9 identified in a family with severe molar oligodontia. This heterozygous deletion combined with 24 bp insertion (including a 5' splice site) is localized in the second exon beyond the highly conserved paired box sequence, and might result either in a premature termination of translation at aa 210 or in an aberrant splicing, leading to a frameshift and premature termination of translation at aa 314. Real-time PCR analysis revealed no mutated transcript in cultured lymphocytes of one of the affected individuals indicating that the novel mutation might result in rapid degradation of the mutated transcript leading to haploinsufficiency of PAX9. Our results support the view that mutations in PAX9 constitute a causative factor in nonsyndromic oligodontia.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland. amostowska@wp.pl
authors.forename: Adrianna
authors.initials: A
authors.lastname: Mostowska
authors.forename: Barbara
authors.initials: B
authors.lastname: Biedziak
authors.forename: Wieslaw H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008963:Molar; D008969:Molecular Sequence Data; D051764:PAX9 Transcription Factor / Q000235:genetics*; D011044:Poland; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human