Novel compound heterozygous ABCC2 variants in patients with Dubin‐Johnson syndrome and intrahepatic cholestasis of pregnancy

This is the authors' abstract. We don't add key points for this paper.

To the Editor: Dubin-Johnson syndrome (DJS, MIM#237500) is an autosomal recessive disorder caused by “loss-of-function” variants in the ABCC2 gene encoding a multidrug resistance-associated protein 2 located in the hepatocyte canalicular membrane. Hitherto, more than 40 ABCC2 variants causing DJS, has been documented. Intrahepatic cholestasis of pregnancy (ICP) occurs commonly during the late second or third trimester of pregnancy. Adverse pregnancy outcomes include spontaneous preterm labor, fetal distress, fetal asphyxia events, and third trimester intrauterine death. We here describe the clinical characteristics and mutational analysis of two female DJS patients presenting ICP and drug induced jaundice.