Phenotype characterization and candidate genotyping of hypodontia in ectodermal dysplasia (ED) and non-syndromic groups Public Deposited

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  • March 21, 2019
  • Olmsted, Matthew J.
    • Affiliation: School of Dentistry, Department of Orthodontics
  • Hypodontia is a common clinical challenge in orthodontics and dentistry. It occurs as a syndrome--ectodermal dysplasia (ED) and as non-syndromic tooth agenesis (NSTA). This study quantifies patterns of agenesis and tooth morphology between ED (n=37) and NSTA (n=81) groups. 118 radiographs and 58 dental casts were measured for presence/absence and mesiodistal width of permanent teeth. In addition, the conicity of the maxillary incisors was determined using a novel index. 88 affected (ED or NSTA) individuals were genotyped using 1474 SNPs of candidate genes (AXIN2, BMP4, EDA, MSX1, and PAX9). Multivariate analyses determined that specific SNPs in BMP4 and MSX1 best explain the genetic differences between the two groups. When compared to NSTA, ED had reduced tooth widths, more conical maxillary incisors, and a higher occurrence of missing teeth (p<0.05), excluding mandibular second premolars. The new measure of conicity detected differences between control, ED, and NSTA groups.
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  • In Copyright
  • "... in partial fulfillment of the requirements for the degree of Master of Science in the School of Dentistry (Orthodontics)."
  • Frazier-Bowers, Sylvia
Degree granting institution
  • University of North Carolina at Chapel Hill
Place of publication
  • Chapel Hill, NC
  • Open access

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