3.4 | Phenotypes of NSTA patients with EDA1mutations at codon 289
Two EDA1 mutations (c.865C>T and
c.866G>A) at codon 289 were reported in our study as well
as in previous studies (Table 3, (Lee et
al., 2014; Ruiz-Heiland et al., 2016;
Song et al., 2009)). The p.Arg289Leu and
p.Arg289Cys mutations caused a change from a positively-charged residue
to a non-polar residue. Although the Arg289His mutation did not cause a
change in physicochemical properties, the volume of the side chain
decreased. Phenotype analysis shows that reported mutations at codon 289
of EDA1 affects the lateral incisors (100%, 91.7%), the
mandibular central incisors (91.7%), and the mandibular second
premolars (75.0%). However, the second molars (8.3%), mandibular first
molars (16.7%), and maxillary central incisors (16.7%) are less
affected. It is particularly interesting that maxillary first molars are
present in all patients (Figure 5).