MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis

J Pediatr Gastroenterol Nutr. 2021 Jan 1;72(1):e22-e24. doi: 10.1097/MPG.0000000000002792.

Abstract

Myosin 5B (MYO5B) pathogenic variants are associated with microvillus inclusion disease (MVID), a congenital disorder of the enterocyte characterized by intractable diarrhea (5). A subset of MVID patients also have cholestatic liver disease. Conversely, some patients may have isolated cholestasis without gastrointestinal symptoms (2). Such patients have been described to have a progressive familial intrahepatic cholestasis (PFIC)-like phenotype with normal serum gamma-glutamyl transferase. We report a novel case in which MYO5B pathogenic variants were discovered by whole exome sequencing in a post-liver transplant patient who originally presented with PFIC-like cholestasis and chronic intermittent diarrhea without ultrastructural evidence of microvillus inclusion disease.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cholestasis* / etiology
  • Cholestasis, Intrahepatic*
  • Humans
  • Liver Transplantation*
  • Malabsorption Syndromes* / etiology
  • Microvilli / pathology
  • Mucolipidoses* / diagnosis
  • Mucolipidoses* / genetics
  • Myosin Heavy Chains
  • Myosin Type V*

Substances

  • MYO5B protein, human
  • Myosin Type V
  • Myosin Heavy Chains

Supplementary concepts

  • Microvillus inclusion disease