Lestari, Widya and Ardini, Yunita Dewi and Muhamad Zamil, Nabilah and Mohamed Yussof, Nor Aini and Idrus, Erik
(2017)
MSX1 and PAX9 genetic alteration in Malaysian families with hypodontia.
Journal of International Dental and Medical Research, 10 (Spec issue).
pp. 735-742.
ISSN 1309-100X
Abstract
Hypodontia is characterized by the absence of one to six teeth. Malaysia has a high prevalence of
hypodontia (2.8%). This study aimed to investigate the MSX1 mutation with clinical variability in
Malaysian hypodontia families and to correlate the findings a previous study of the PAX9 mutation.
Materials and methods: We re-examined seven individuals from two families of the previous PAX9
study. Orthophantomogram (OPG) and intraoral photos were re-assessed. Saliva was collected for
genetic analysis. Direct sequencing was done on exons 1 and 2 of MSX1 and exons 2 and 3 of
PAX9. Results: In family 1, three out of five members are affected. The mother has posterior
hypodontia, while the daughters have anterior hypodontia. Point mutations on exon 1 of MSX1
(c.599C>T, c.732G>A) and on exon 3 of PAX9 (c.477delG, c.480delT) were identified on 1B
(mother) and 1D (second daughter). Her carrier-son (1E) exhibited c.597C>T, c.730G>A on exon 1
of MSX1 and c.273T>G on exon3 of PAX9. In family 2, the daughter has a missing lower premolar
with a point mutation on exon 1 of MSX1 (c.730G>A). A similar point mutation in her nonhypodontia
father on exon 2 of PAX9 (c.628C>T) was observed. Conclusion: Mutation of MSX1 is
observed in familial hypodontia; both genes MSX1 and PAX9 are needed to manifest hypodontia
whereby PAX9 is the predominant gene mutation.
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