Figure and table captions
Figure1 Pedigree with Axenfeld-Rieger syndrome in the proband. Family
members and disease-causing mutations are presented. Normal individuals
are shown as clear circles (females) or squares (males), whereas the
affected individual is shown as a filled square with an arrow indicating
the proband (III:2) with the missense variant of the FOXC1 gene:
c.246C>A. “M” indicates the mutant allele of FOXC1
(mutant type), whereas “+” indicates the normal allele (wild type).
Figure 2 Representative anterior segment photography of patient III:2
from both eyes. A and B represent the right eye and left eye,
respectively. C shows systemic and ocular characteristics of patient
III:2. D shows developmental malformation of the teeth, while E shows
the outward projection of the navel.
Figure 3 Pyrogram profiles for mutation verification by dideoxy DNA
sequencing shows overlapping peaks at nucleotide position 246 (red
arrow) due to the missense variant of the FOXC1 gene:
c.246C>A. in the proband (III:2), while the variant was not
detected in the proband’s parents (II:1, II:2), his brother (III:1) or
his grandmother (I:2). Unfortunately, DNA samples of his grandfather (I:
1) were not collected.
Figure 4 Multiple sequence alignment of the region of the FOXC1 protein
surrounding the novel p.S82R mutation in various species. The serine(s)
residue (indicated with a red strip-type frame) was highly conserved
among all species analyzed.
Figure 5 The results showed that the 82nd amino acid of the wild type
was serine, which changed to arginine after mutation, leading to an
uncharged amino acid (A, wild type) change to a positively charged amino
acid (B, p.S82R).
Table 1 Clinical features of the pedigree members. Abbreviations: VSD,
ventricular septal defect
Table 2 Characteristics of the FOXC1 variant in the proband and analysis
of its disease-causing effects. Abbreviations: c, variation at the cDNA
level; p, variation at the protein level; S82R, serine substitution
conserved arginine at codon 82; hetero, heterozygote; AD, autosomal
dominant inheritance.
Table 3 PCR primers and PCR product size