Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report

Figure 1 Genetic, clinical, and molecular findings. A: Pedigree of the family cluster with five von Meyenburg complexes (VMCs) patients of two generations, with affected status indicated by black shading. The arrow indicates the proband; B: MRI findings display a typical feature of VMCs; C: A 1-year follow-up by MRI shows carcinoma in the right lobe of liver; D: Intraoperative pathology diagnoses a moderately differentiated HCC and VMCs; E: Electropherograms show a heterozygous deletion mutation at exon 32 in the PKHD1 gene (c.4280delG) in the proband (I: 2); F: Pedigree of the family cluster with one von Meyenburg complexes (VMCs) patient of four generations, with affected status indicated by black shading. The arrow indicates the proband; G and H: B ultrasound findings of proband B; I: B ultrasound findings of III: 1; J: Electropherograms show a heterozygous deletion mutation at exon 28 in the PKHD1 gene (p.Arg1040Ter) in the proband B (III: 2). HCC: Hepatocellular carcinoma; MRI: Magnetic resonance imaging.