Many causative genes for cholestasis and jaundice in children have been identified, such as JAG1 and NOTCH2 in Alagille syndrome,33–35ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, and MYO5B in PFIC,36,37ABCC2 in Dubin–Johnson syndrome (DJS),28,29 and SLC25A13 in neonatal intrahepatic cholestasis caused by citrin deficiency.38 Despite the targeted panel sequencing of these known genes, a genetic diagnosis of Ped-CLD has been established in only 25% of cases,37,39,40 possibly due to unidentified causative genes for Ped-CLD. Here, TJP2 is linked to progressive familial intrahepatic cholestasis.