For rs116998555, the presence of the T allele (the thymine variant) was associated with tooth agenesis [odds ratio (OR) = 5.722; 95% confidence interval (CI) = 3.053-10.727; P < 0.001], while for rs147680216, the A allele (the adenine variant) correlated with this condition (OR = 2.665; 95%CI = 1.512-4.695; P < 0.001).
We report a nonsense heterozygous mutation in exon 2 of WNT10A c.321C>A[p.Cys107*] likely to be responsible for the severe tooth agenesis identified in this family through the creation of a premature stop codon, resulting in truncation of the amino acid sequence and therefore loss of protein function.
For rs116998555, the presence of the T allele (the thymine variant) was associated with tooth agenesis [odds ratio (OR) = 5.722; 95% confidence interval (CI) = 3.053-10.727; P < 0.001], while for rs147680216, the A allele (the adenine variant) correlated with this condition (OR = 2.665; 95%CI = 1.512-4.695; P < 0.001).
The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP databases for Caucasian populations.