An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency

Tokai J Exp Clin Med. 2024 Sep 20;49(3):133-136.

Abstract

Abnormalities in MYO5B, which encodes an unconventional myosin Vb, not only cause microvillus inclusion disease but also cholestatic liver disease, including benign recurrent intrahepatic cholestasis (BRIC). However, MYO5B-related cholestasis has not yet been reported in Japan. In this study, we present the case of a female patient in her thirties, who had developed jaundice, without diarrhea, in the first year after birth. The jaundice spontaneously subsided and occasionally recurred. Whole-exome sequencing identified two pathogenic variants in MYO5B: a nonsense mutation (c. G1124A: p. W375X) and a missense mutation (c.C2470T: p.R824C). Therefore, the patient was diagnosed with MYO5B-associated BRIC. This is the first reported case of cholestasis with a defined MYO5B defect in Japan.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cholestasis, Intrahepatic* / etiology
  • Cholestasis, Intrahepatic* / genetics
  • Codon, Nonsense*
  • Exome Sequencing*
  • Female
  • Humans
  • Japan
  • Jaundice / etiology
  • Mutation, Missense*
  • Myosin Heavy Chains / genetics
  • Myosin Type V* / deficiency
  • Myosin Type V* / genetics
  • Recurrence*

Substances

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