Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

Laboratory of Animal Embryology Institute of Animal Physiology and Genetics The Academy of Sciences of the Czech Republic Brno Czech Republic

Laboratory of DNA Diagnostics Department of Biochemistry Faculty of Science Masaryk University Brno Czech Republic

Laboratory of Neurochemistry Bosch Institute and Discipline of Anatomy and Histology School of medical sciences Sydney Medical School The University of Sydney Sydney NSW Australia

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