A novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series

Progressive familial intrahepatic cholestasis type 3 (PFIC‐3) is a rare disorder characterized by chronic cholestasis usually progressing to end‐stage liver disease (ESLD) within the first two decades of life. PFIC‐3 is caused by pathogenic genetic variants of the ATP‐binding cassette 4 (ABCB4) gene with variable inheritance; the most common is autosomal recessive. We present two cases of PFIC‐3 with genetic testing confirming a novel genetic variant in ABCB4 with homozygous genotype c.779 T > C, p.L260P. Both individuals are from mainland Southeast Asia and have a clinical picture consistent with cholestasis progressing to ESLD.