2. Academic Validation
  3. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease

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

  • J Pediatr. 2022 Jan;240:284-291.e9. doi: 10.1016/j.jpeds.2021.09.019.
Amelie Stalke 1,  Malte Sgodda 2,  Tobias Cantz 2,  Britta Skawran 3,  Elke Lainka 4,  Björn Hartleben 5,  Ulrich Baumann 6,  Eva-Doreen Pfister 6
Affiliations

Affiliations

  • 1 Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany; Department of Human Genetics, Hannover Medical School, Hannover, Germany. Electronic address: stalke.amelie@mh-hannover.de.
  • 2 Translational Hepatology and Stem Cell Biology, Department of Gastroenterology, Hepatology and Endocrinology, REBIRTH-Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany.
  • 3 Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • 4 Department for Pediatric Nephrology, Gastroenterology, Endocrinology and Transplant Medicine, University Children's Hospital Essen, Essen, Germany.
  • 5 Institute of Pathology, Hannover Medical School, Hannover, Germany.
  • 6 Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.
PMID: 34555379 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.

Keywords

autosomal cholestatic liver disease; functional cell polarity; liver cirrhosis; possibly underdiagnosed; wide phenotypic spectrum.

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