Investigating the Etiology of Primary Failure of Eruption (PFE): A Comprehensive Phenotypic and Genetic Analysis Public Deposited

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  • March 19, 2019
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  • Hendricks, Heather
    • Affiliation: School of Dentistry, Department of Orthodontics
Abstract
  • Heather M Hendricks: Investigating the Etiology of Primary Failure of Eruption (PFE): A Comprehensive Phenotypic and Genetic Analysis (Under the direction of Sylvia A Frazier-Bowers) The genetic basis of PFE (OMIM ID: 125350), a diagnosis that conveys a poor prognosis in the eruption/ function of teeth, was interrogated. Treatment with a continuous archwire worsens the condition. Two aims tested the hypothesis that PTH1R mutations result in loss of function and that multiple genes cause PFE: to determine 1) the fate of a functional PTH1R mutation and 2)PFE contribution by BMP2 and TNFSF-11. Methods: We used IFA and transfected COS7 cells with either the WT or 1092delG PTH1R mutation sequence to compare the fate of the expressed protein and performed mutational analysis of BMP2 and TNFSF-11 with PCR and sequencing. Results: Sequencing revealed 3 intronic SNPs in TNFSF-11; in silico /functional studies showed expression alterations and structural changes in mutant vs WT PTH1R protein. Conclusion: PTH1R mutations in PFE likely result from diminished function; causative mutations in genes.
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  • In Copyright
Advisor
  • Wright, J. Timothy
  • Divaris, Kimon
  • Frazier-Bowers, Sylvia
  • Bencharit, Sompop
Degree
  • Master of Science
Degree granting institution
  • University of North Carolina at Chapel Hill Graduate School
Graduation year
  • 2015
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  • Chapel Hill, NC
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