Figure legends
FIGURE 1 Characteristics of the four probands with non-syndromic tooth agenesis (NSTA).
(A) Intraoral image of probands; (B) Legend of intraoral missing teeth of probands; (C) Panoramic radiography of probands. Black squares indicate missing teeth; Max: maxillary; Mand: mandibular.
FIGURE 2 Identification of a missense mutation of the EDAR gene in NSTA Family 4.
(A) The pedigree of NSTA Family 4; the black arrow points to the proband. (B) DNA sequencing chromatograms of the proband and his mother. (C) Sequence alignment results show that the other six residues are conserved across seven species. The mutant allele is marked in the red box. *, indicate a completely conserved column of amino acids.
FIGURE 3 Pedigrees and mutation information in NSTA Families 1-3.
Black arrows point to the probands. Red arrows indicate the mutated bases in DNA sequencing chromatograms. Three reported EDA1 mutations c.865C>T (Arg289Cys), c.866G>A (Arg289His), and c.1013C>T (Thr338Met) were identified in the probands of NSTA families 1-3. Mothers of patients are all heterozygotes, fathers are all unaffected.
FIGURE 4 Tooth missing rate of NSTA patients with EDAR mutations (excluding the third molars).
Max, maxillary; Mand, mandibular; CI, central incisor; LI, lateral incisor; Ca, canine; PM, premolar; Mo, molar. Light stripes indicate tooth missing rate of maxillary dentition. Dark stripes indicate tooth missing rate of mandibular dentition.
FIGURE 5 Tooth missing rate of NSTA patients with EDA1 mutations at codon 289 (excluding the third molars).
Max, maxillary; Mand, mandibular; CI, central incisor; LI, lateral incisor; Ca, canine; PM, premolar; Mo, molar. Light stripes indicate tooth missing rate of maxillary dentition. Dark stripes indicate tooth missing rate of mandibular dentition.