PAX9 mutation of non-syndromic hypodontia in three Malaysian families
OBJECTIVE: 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 Malaysian hypodontia families. MATERIAL-METHODS: 15 participants were selected from three hypodontia probands and their family...
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| Format: | Conference or Workshop Item |
| Language: | English |
| Published: |
2016
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| Online Access: | http://irep.iium.edu.my/51183/ http://irep.iium.edu.my/51183/ http://irep.iium.edu.my/51183/1/51183_Widya.pdf |
| Summary: | OBJECTIVE: 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 Malaysian hypodontia families.
MATERIAL-METHODS: 15 participants were selected from three hypodontia probands and their family members. Clinical examination was done for all whilst orthophantomogram was taken for hypodontia patient only. Saliva was collected for genetic analysis. Direct sequencing was performed by using exon 2, 3 and 4 of PAX9.
RESULTS: 5 out of 6 family members in family 1 have missing premolars and molars. Point mutation was identified on exon 2 of patients 1A;c.612delA,1D;c.614G>T,1E;c.621-622insC,1F;c.611delT and on exon 3 of patients 1A;c.462delG,1E;c.233C>A. The patient 1C (oligodontia) shown no mutation. Two members in second family have missing anterior teeth. The point of mutation was seen on exon 2 of patients 2A;c608G>T,2D;c.616G>T and on exon 3 of patient 2A;c.476delG. 3 out of 5 family members in family 3 are affected. The mother has missing posterior tooth, the daughters have missing anterior teeth. The point mutation was identified on exon 2 on patient 3C;c.620G>T and on exon 3 on patients 3B;c.465delG,3C;c.273T>G,3D;c.462delT.
CONCLUSIONS: Identified point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in these families. |
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