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Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia

¹ Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK- 2200 Copenhagen, Denmark;
² Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;
³ Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;
⁴ Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and
⁵ Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;

Correspondence: ^* corresponding author, mette_klein{at}mail.dk

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.

Key Words: PAX9 • hypodontia • oligodontia • teeth

Journal of Dental Research, Vol. 84, No. 1, 43-47 (2005)
DOI: 10.1177/154405910508400107


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