Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia

摘要: Tooth development is under strict genetic control. Oligodontia defined as the congenital absence of 6 or more permanent teeth, excluding third molar. The occurrence non-syndromic oligodontia poorly understood, but in recent years several cases have been described where a single gene mutation associated with oligodontia. Several studies shown that MSX1 and PAX9 play role early tooth development. We screened one family for mutations PAX9. pedigree showed an autosomal-dominant pattern inheritance. Direct sequencing restriction enzyme analysis revealed novel heterozygous A to G transition AUG initiation codon exon 1 affected members family. This first found PAX9, we suggest it causes haploinsufficiency.