Figure 3.

(a) The Pedigree of JOAG patient with PLOD2 (p.Arg627Gln) mutation. Affected status is shaded in black. ↑ indicates proband. - /- represents homozygous wild genotype. - /+ indicates p. Arg627Gln heterozygous mutation. Siblings (*) were not available for the genetic study. Y indicates age in years at the time of study. (b) DNA Sanger sequencing traces revealed wild allele “C” at chr3:145789116 of PLOD2 in father (II.1) and mother (II.2) and confirmed a heterozygous T allele [chr3: 145789116 C>T(p.Arg627Gln)] in the proband (III.1)