Clinical Research And Sequence Analysis In PAX9、MSX1and AXIN2Genes Of A Non-Syndromic Hypodontia Family

Background Tooth agenesis refers to tooth absence during tooth development. It was occured in the early tooth development stage, bud stage. It is one of the most common dysplasia of human tooth development. The pathogens are not clear, associated with genetic factors, environmental effect or others. Studies have found that non-syndromic hypodontia associated with PAX9, MSX1, AXIN2, BMP4, BMP2genes.Purpose To investigate the clinical traits and genetic mutations in PAX9, MSXl and AXIN2genes of a non-syndromic hypodontia family to discuss pathogenic mechanism of this disease.Methods A non-syndromic hypodontia family underwent complete oral examination, including panoramic radiographs and blood samples were collected. Use PCR primers and sequenced by the methods of Sanger dideoxy to detective PAX9、MSX1and AXIN2gene, analyse whether there were mutations in PAX9, MSX1and AXIN2gene.Results1. Clinical research:(1) The non-syndromic hypodontia family dysplasia is an incomplete autosomal dominant inheritance.(2) The mostly absent teeth were the second premolar and canine, each of them was35.29%of total missing teeth in this family.; 2. Gene detective analysis:(1)2SNPs c.718、c.718CG>TC were found in PAX9gene;(2) None mutation found in MSX1gene;(3) Three SNPs found in AXIN2gene c.432.T>C、c.1365.A> G. c.2062.C>T.(4) AXIN2gene c.2062.C>T mutation detective of all the members in this family:We cannot ensure that this non-syndromic hypodontia family was caused by this mutation, but it may be participated inpathopoiesia, and it can affect the number and position of the missing teeth.Conclusions1. This non-syndromic hypodontia family dysplasia is an autosomal dominant inheritance.2. PAX9、MSX1and AXIN2gene may not be the genealogy of this non-syndromic hypodontia family.3. The SNP of AXIN2c.2062C>T may be a risk of non-syndromic hypodontia.