ARC syndrome with high GGT cholestasis caused by VPS33B mutations

Figure 1 Genomic DNA sequences of the exons 6 and 20 of VPS33B gene from the proband and her parents. The arrows in exon 6 indicate T/A heterozygous (c.403+2T > A) in the proband and her mother, but normal sequence (T) in her father. The arrows in exon 20 indicate heterozygous insertion of G (c.1509-1510insG) in the proband and her father, but no change in her mother. These confirmed the proband was a compound heterozygote for c.403+2T > A and c.1509-1510insG in VPS33B gene.