A novel mutation in PAX9 causes familial form of molar oligodontia
0301 basic medicine
Base Sequence
Tooth Abnormalities
DNA Mutational Analysis
Molecular Sequence Data
Restriction Mapping
Sequence Analysis, DNA
Molar
03 medical and health sciences
0302 clinical medicine
Humans
Female
Amino Acid Sequence
PAX9 Transcription Factor
Poland
Frameshift Mutation
DNA Primers
DOI:
10.1038/sj.ejhg.5201536
Publication Date:
2005-12-07T11:44:28Z
AUTHORS (3)
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.
SUPPLEMENTAL MATERIAL
Coming soon ....
REFERENCES (33)
CITATIONS (38)
EXTERNAL LINKS
PlumX Metrics
RECOMMENDATIONS
FAIR ASSESSMENT
Coming soon ....
JUPYTER LAB
Coming soon ....