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PAX9 mutation of non-syndromic hypodontia in a Malaysian family

Mohamed Idrus, Nur Farahiyah and Rosley, Nur Syahira and Irfanita, Nining and Ardini, Yunita Dewi and Ichwan, Solachuddin J. A. and Lestari, Widya (2016) PAX9 mutation of non-syndromic hypodontia in a Malaysian family. In: 10th International Dentistry Scientific Meeting (IDSM) 2016, 29th-30th October 2016, Depok, Indonesia.

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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 point mutation of PAX9 either on exon 2 or exon 3 is responsible for the hypodontia phenotype in this family.

Item Type: Conference or Workshop Item (Plenary Papers)
Additional Information: 6701/53301
Uncontrolled Keywords: Hypodontia, PAX9, Mutation
Subjects: R Medicine > RK Dentistry
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Dentistry
Depositing User: Dr Widya Lestari
Date Deposited: 09 Dec 2016 15:42
Last Modified: 12 Oct 2017 18:43
URI: http://irep.iium.edu.my/id/eprint/53301

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