Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene
نویسندگان
چکیده
IntRoductIon Gilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)‐glucuronosyltransferase gene (UGT1A1).[1] Dubin‐Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP‐binding cassette subfamily C member 2 gene (ABCC2).[2] This report described the unusual features encountered in a Chinese family that was genetically confirmed to have both DJS and GS.
منابع مشابه
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.
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