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Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia

Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia,10.1177/154405910508400107,Journal of Dental Research,M. L. Klein,P. Nieminen,L. Lam

Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia   (Citations: 27)
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Tooth development is under strict genetic control. Oligodontia is defined as the congenital absence of 6 or more permanent teeth, excluding the third molar. The occurrence of non-syndromic oligodontia is poorly understood, but in recent years several cases have been described where a single gene mutation is associated with oligodontia. Several studies have shown that MSX1 and PAX9 play a role in early tooth development. We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. The pedigree showed an autosomal-dominant pattern of inheritance. Direct sequencing and restriction enzyme analysis revealed a novel heterozygous A to G transition mutation in the AUG initiation codon of PAX9 in exon 1 in the affected members of the family. This is the first mutation found in the initiation codon of PAX9, and we suggest that it causes haploinsufficiency.
Journal: Journal of Dental Research - J DENT RES , vol. 84, no. 1, pp. 43-47, 2005
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