Fig. 1

Clinical and genetic features of the proband. a-b Abdominal CT scan demonstrating bilateral renal cysts in (a) transverse and (b) coronal sections. No liver cysts are observable and spleen size is within normal limits. c Pedigree diagram showing segregation of the two variants found in the proband (arrow). d Sequence chromatograms showing compound heterozygous changes in PKHD1 c.6900C > T; p.(Asn2300=) (predicted to affect transcript splicing) and c.7964A > C; p.(His2655Pro) in the proband (ARPKD), compared to wild type control (CTRL). e Schematic of the PKHD1 protein encoded by PKHD1 gene (NM_138694, transcript ENST00000371117). Exon boundaries, protein domains and localisation of variants p.(Asn2300As=) and p.(His2655Pro) are displayed. Schematic was drawn using ProteinPaint [26] and SMART domain [27]. Protein domains, parallel beta-helix repeats, red; low complexity regions, pink; IPT domains, green; G8 domains, blue; transmembrane region, orange