TJP2 and intrahepatic cholestasis: Further analysis of the trio-WES of the family 1 revealed that the affected mother and son also carried a variant (c.1590T>G, p.D530E; g.108844T>G; chr9:71845067T>G; Figure 3A) in the TJP2 gene (GenBank: NM_004817), a known candidate gene for intrahepatic cholestasis and sensorineural hearing loss (Kim et al., 2014) (Supplementary Table S1).