PFIC: An Autosomal Recessive Disease
Genetics can explain how characteristics such as height, hair color, or disease susceptibility can pass from parents to their offspring. This page contains a breakdown of the genetics of PFIC and it’s subtypes.
PFIC Subtypes: Single Gene Mutations
All subtypes of Progressive Familial Intrahepatic Cholestasis are cause by a single gene mutation. The different PFIC Subtypes are related to different genes. In addition, not all mutations that cause a specific subtype are the same. In fact, researchers have found quite a few different mutations in each of the genes that are involved in the different subtypes. The genes related to the different PFIC subtypes have different functions, but they have in common that their malfunction causes cholestatic liver disease. The attached table was developed and generously contributed by Dr. Laura Bull and Dr. Richard Thompson.
Genetics of PFIC: Current Status and Implications
By Laura Bull, Ph.D. Professor
Liver Center Laboratory, Department of Medicine, and Institute for Human Genetics
University of California San Francisco
The attached paper was written by Dr. Laura Bull, PhD to provide and overview of the current understanding of the genetics of PFIC. This paper was updated in 2018. She will be working on an update based on the most recent findings to be available in January, 2021.