PAX9 mutation of non-syndromic hypodontia in a Malaysian family
Objective: Hypodontia is portrayed by the missing of one to six numbers of teeth. PAX9 is one of the genes that caused non-syndromic hypodontia. We aimed to investigate the PAX9 mutation of non-syndromic hypodontia with clinical variability in a Malaysian hypodontia family. Methods: Clinical examin...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Indonesia
2016
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/ http://irep.iium.edu.my/57107/1/hypodontia-published-UI.pdf |
| Summary: | Objective: Hypodontia is portrayed by the missing of one to six numbers of teeth. PAX9 is one of the genes that caused non-syndromic hypodontia. We aimed to investigate the PAX9 mutation of non-syndromic hypodontia with clinical variability in a Malaysian hypodontia family.
Methods: Clinical examinations for all participants whilst orthophantomogram (OPG) was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2and 3 of PAX9 gene.
Results: 3 out of 5 family members are affected with hypodontia. The mother has missing posterior tooth and her daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 1C; c.620G>T and on exon 3 on patients 1B; c.465delG, 1C; c.273T>G, 1D; c.462delT.
Conclusions: Our findings suggested those identified points mutations of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family. |
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