Pathophysiology of aceruloplasminemia in the proband: absence of liver Cp and causal mutations.

Panel Ai shows the histology of the proband's liver (hematoxylin and eosin, × 250), with normal lobular architecture without evidence of fibrosis; Aii shows heavy iron deposition in hepatocytes (Perls colors, × 250); Aiii shows results of IHC studies with a polyclonal antibody showing absence of Cp in proband's hepatocytes (IHC, × 250); and Aiv shows Cp in normal hepatocytes (IHC, × 250). Insert is a high-power view (× 400). In (B), the left panels show a sequencing chromatograph of the proband's amplified exon 3 in the ceruloplasmin region spanning the mutation, compared with a normal control (wild-type). The right panels are a sequencing chromatograph of the proband's amplified exon 17 in the region encompassing the mutation, compared with a normal control (wild-type).