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Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters ( ABCB4 ,  ABCB11 ). High throughput sequencing in 147 patients was performed in the transporters  ABCB4 ,  ABCB11 ,  ATP8B1 ,  ABCC2  and tight junction protein 2 ( TJP2 ). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve  ABCB4  mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter. Four potential  ABCB11  mutations - Glu297Gly (x3) and a donor splice site mutation (intron 19). Five potential  ATP8B1  mutations - Asn45Thr (x3), and two others, Glu114Gln and Lys203Glu. Two  ABCC2  mutations - Glu1352Ala and a duplication (exons 24 and 25). Three potential mutations were identified in  TJP2 ; Thr62Met (x2) and Thr626Ser. No patient harboured more than one mutation. All were heterozygous. An additional 545 cases were screened for the potential recurrent mutations of  ATP8B1  (Asn45Thr) and  TJP2  (Thr62Met) identifying three further occurrences of Asn45Thr. This study has expanded known mutations in  ABCB4  and  ABCB11  and identified roles in ICP for mutations in  ATP8B1  and  ABCC2 . Possible novel mutations in  TJP2  were also discovered.

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy