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Additional file 1. Raw immunoblot image of HBV core protein (HBc) from extracts of HepAD38 and HepG2 cells expressing whole HBV genome and the HBV 1.3mer plasmid respectively. GAPDH was used as internal control.

Table S3. List of rare homozygous variants in III:5 and III:15 located within the shared homozygous segment on chr12. (DOCX 13 kb)

Figure S1. Sanger sequencing results of affected family. Both parents (II:3 and II:4) (right upper and lower panels) of Patient 1 were heterozygous carriers, arrows indicate the double peaks (heterozygosity). Patient 1 (III:9) (left lower panel) result indicates homozygous change, arrow is indicating the change. While an unaffected individual (III:11) (left upper panel) showed both correct/wild type alleles. (DOCX 106 kb)

Table S1. Clinical findings in the nine affected family members with a homozygous WNT1 mutation. The “+” signs indicates the presence and severity of the symptom and “-” sign indicating the absence of the symptom. (DOCX 15 kb)