The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum

• Published in: Annals of human genetics Vol. 86; no. 3; pp. 119 - 126
• Main Authors: Bakır, Abdullatif, Topçu, Vehap, Çavdarlı, Büşranur
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.05.2022
• Subjects: ABCB11; ABCB4; ATP8B1; Cholestasis; Cholestasis - genetics; Cholestasis, Intrahepatic - diagnosis; Cholestasis, Intrahepatic - genetics; Etiology; Gallbladder diseases; Genetic screening; Genotypes; Humans; Liver diseases; Mutation; Neonates; Next‐generation sequencing; Patients; Phenotypes; progressive familial intrahepatic cholestasis; Turkey; Turkey; progressive familial intrahepatic cholestasis; Next-generation sequencing; ABCB11; ATP8B1; ABCB4
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1111/ahg.12456

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetically heterogeneous group of autosomal recessive liver disorders that manifests as intrahepatic cholestasis during the neonatal period. ATP8B1, ABCB11, and ABCB4 genes are responsible for PFIC type 1, PFIC type 2, and PFIC type 3, respectively. To determine the underlying molecular etiology of PFIC, 80 patients from 77 families were investigated. The molecular genetic diagnosis was applied by using next‐generation sequencing (NGS) and revealed 29 different variants from 32 patients. In this study, we evaluated these variants according to mechanisms, clinical sub‐groups, and genotype‐phenotype correlation.