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Failure to develop complete dentition, tooth agenesis, is a common developmental anomaly manifested most often as isolated but also as associated with many developmental syndromes. It typically affects third molars or one or few other permanent teeth but severe agenesis is also relatively prevalent. Here we report mutational analyses of seven candidate genes in a cohort of 127 probands with non-syndromic tooth agenesis. 82 lacked more than five permanent teeth excluding third molars, called as oligodontia. We identified 28 mutations, 17 of which were novel. Together with our previous reports, we have identified two mutations in  MSX1 ,  AXIN2  and  EDARADD , five in  PAX9 , four in  EDA  and  EDAR , and nine in  WNT10A . They were observed in 58 probands (44%), with a mean number of missing teeth of 11.7 (range 4 to 34). Almost all of these probands had severe agenesis. Only few of the probands but several relatives with heterozygous genotypes of  WNT10A  or  EDAR  conformed to the common type of non-syndromic tooth agenesis, incisor-premolar hypodontia. Mutations in  MSX1  and  PAX9  affected predominantly posterior teeth, whereas both deciduous and permanent incisors were especially sensitive to mutations in  EDA  and  EDAR . Many mutations in  EDAR ,  EDARADD  and  WNT10A  were present in several families. Biallelic or heterozygous genotypes of  WNT10A  were observed in 32 and hemizygous or heterozygous genotypes of  EDA ,  EDAR  or  EDARADD  in 22 probands. An  EDARADD  variant were in seven probands present together with variants in  EDAR  or  WNT10A , suggesting combined phenotypic effects of alleles in distinct genes.

plos one

Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations