Progressive Familial Intrahepatic Cholestasis Type 3: a Novel Mutation in a Saudi Child

Abstract

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is caused by defects in ABCB4 gene. Liver histology although important, but is nonspecific, and molecular genetic testing is essential for diagnosis. To report PFIC3 in a Saudi male child and determine the pathogenetic role of a novel of ABCB4 in one of them. Liver biopsy, immunohistochemical analysis for MDR3 protein expression and molecular genetic analysis were done for the patient. Liver biopsy showed extensive ductular reaction with portal and periportal fibrosis. Immunohistochemical analysis revealed absence of MDR3 protein expression at the canalicular pole. Molecular genetic analysis revealed a novel mutation in ABCB4: the c.1783 C > T (p.Arg595X) mutation in exon 15 in homozygous state. A novel loss-of-function mutation has been identified. Molecular genetic testing is essential and conclusive for diagnosis.