MYO5B mutation causing cholestasis in the absence of Microvillous Inclusion Disease: a rare case report

Abstract

Background and Aim: Gene mutations known to cause Progressive Familial Intrahepatic Cholestasis (PFIC) 1, 2 and 3 have been long known. Newer variants, labelled PFIC 4, 5 and 6 have been described in recent literature. Myosin 5B (Myo5B) mutation is known to cause Microvillous Inclusion Disease (MVID) and has recently also been implicated in PFIC 6, a rare entity with only few documented case reports. We describe one such case report of a young girl presenting with cholestasis with normal serum Gamma-Glutamyl Transferase (GGT) activity, without MVID, diagnosed to have PFIC 6.