KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease

2021/09/20 by Amelie Stalke, Malte Sgodda, Tobias Cantz +6 · 19 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Liver physiology and pathology #Genetic and Kidney Cyst Diseases #Drug Transport and Resistance Mechanisms

paper · doi:10.1016/j.jpeds.2021.09.019

Abstract

KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying 2 different homozygous KIF12 truncating variants. Immunofluorescence investigations of paraffin-embedded liver sections suggest that KIF12-associated impaired functional cell polarity may be the underlying cause.

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