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.