A review on non-syndromic tooth agenesis associated with PAX9 mutations
Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English English English |
| Published: |
Elsevier
2018
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf |
| Summary: | Tooth agenesis in the reduction of tooth number which includes hypodontia,
oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis.
To date, several genetic mutations that unlock the causes of non-syndromic tooth
agenesis are being discovered; these have been associated with certain illnesses because tooth
development involves the interaction of several genes for tooth epithelium and mesenchyme
odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identiˇed as the main
causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia.
Previous study using animal models reported that PAX9-deˇcient knockout mice exhibit missing
molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and
nonsense mutations are reported to be responsible; however, the most severe condition showed
by the phenotype is caused by haploinsufˇciency. This suggests that PAX9 is dosage-sensitive.
Understanding the mechanism of genetic mutations will beneˇt clinicians and human geneticists
in future alternative treatment investigations. |
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