PAX9 mutation of non-syndromic hypodontia in a Malaysian family

• Main Authors: Mohamed Idrus, Nur Farahiyah, Rosley, Nur Syahira, Irfanita, Nining, Ardini, Yunita Dewi, Ichwan, Solachuddin J. A., Lestari, Widya
• Format: Conference or Workshop Item
• Language: English; English
• Published: UI Proceedings Series 2016
• Subjects: RK Dentistry
• Online Access: http://irep.iium.edu.my/53301/13/53301%20slides.pdf; http://irep.iium.edu.my/53301/19/Dr%20Widya%20KOD.pdf; http://irep.iium.edu.my/53301/; http://proceedings.ui.ac.id/index.php/uiphm/article/view/37/73

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.