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

KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying two 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.

source https://www.jpeds.com/article/S0022-3476(21)00893-3/fulltext?rss=yes

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