Abstract: Objective To investigate the SLCO1B1 and SLCO1B3 gene mutations and clinical features in a Chinese patient with Rotor syndrome.Methods The clinical data of the patient was collected. Genomic DNA was extracted from peripheral white blood cells and subjected for second-generation sequencing to screen 4000 known genes for single genetic diseases. Then the detected mutations were confirmed by Sanger sequencing analysis.Results The main clinical manifestations were recurrent yellowish skin and sclera. Laboratory examinations showed as hyperbilirubinemia with both direct and indirect bilirubin elevating. SLCO1B1 gene c.1738 C>T homozygous mutation and SLCO1B3 gene c.360_481 del homozygous mutation were found by high throughput sequencing. C.1738 C>T mutation, a nonsense mutation reported in references, was speculated to causes the conversion of 580th amino acid codons from arginine to a stop codon in protein. And C.360_481 del mutation was a frameshift mutation that caused the nucleotide deletion from 360 th to 481 th in the protein coding region, but it was neither reported in the references nor recorded in SNP database. The frameshift caused deletion of 40 amino acids and code shifting of open reading frame, which might lead to the protein function loss.Conclusion SLCO1B1 and SLCO1B3 gene mutations result in dysfunction of organic anion transporting polypeptide OATP1B and OATP1B3, which is the molecular genetics foundation in the case of Rotor syndrome. This is the first report of Rotor syndrome with SLCO1B1 and SLCO1B3 gene mutations analysis in Chinese population.

Key words: Rotor syndrome, SLCO1B1 gene, SLCO1B3 gene