Recurrent SLCO1B1 and SLCO1B3 mutations identified in three patients with Rotor syndrome

Background Rotor syndrome is a rare genetic disease inherited in an autosomal digenic recessive manner. It is caused by pathogenic mutations in both SLCO1B1 and SLCO1B3 genes, and characterized by predominantly conjugated hyperbilirubinemia. Methods Three Chinese patients clinically diagnosed with Rotor syndrome were included. Mutations in SLCO1B1/3 genes were identified using whole-exome sequencing. Results They all carried the same homozygous c.1738C>T mutation in SLCO1B1 and the c.481+22insLINE variant in SLCO1B3 . Conclusion This study established a genetic diagnosis for the three patients and contributed to finding hotspot mutations in Rotor syndrome.