title: Novel missense mutation in PAX9 gene associated with familial tooth agenesis.
abstract: PAX9 is a transcription factor deeply involved in the gene networks that regulate odontogenesis. To date, only a restricted number of mutations in this gene have been associated with non-syndromic tooth agenesis. Six families segregating non-syndromic oligodontia/hypodontia were screened for mutations in PAX9 gene. A novel missense mutation lying in the exon 2 close to the end of the paired domain in three families was identified. Heterozygous mutation C503G is expected to result in an alanine-to-glycine amino acid change in residue 168 (Ala168Gly), which is invariably conserved among several species. The alanine-glycine change might lead to protein structural alteration because of the unique flexibility properties of glycine. Three mutations in intron 2 were also detected. Variations IVS2-109G>C, IVS2-54A>G, and IVS2-41A>G were identified in both affected and unaffected members of the sample; however, these polymorphic variants may be involved in the phenotype as one proband showing all three intronic mutations in homozygosis was affected with the most severe oligodontia within the sample.
authors: Institute of Biotechnology, Biological Sciences Center, University of Caxias do Sul, Caxias do Sul, Brazil. ortoboeira@gmail.com
authors: B R
authors: BR
authors: Boeira
authors: S
authors: S
authors: Echeverrigaray
mesh_terms: D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D000848:Anodontia / Q000235:genetics*; D005799:Genes, Dominant; D005998:Glycine / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D000409:Alanine; D005998:Glycine