A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis

Aksu N. U. , Gorukmez O., Gorukmez O., UNCUOĞLU A.

CUREUS, vol.13, no.11, 2021 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 11
  • Publication Date: 2021
  • Doi Number: 10.7759/cureus.19326
  • Title of Journal : CUREUS
  • Keywords: novel mutation, genetic mutation, normal/low ggt, progressive familial intrahepatic cholestasis, myo5b, MICROVILLUS INCLUSION DISEASE, MYOSIN VB, CHILDREN


The genetic defect of MYO5B is usually associated with microvillus inclusion disease (MVID). MYO5B mutations are one of the rare causes of progressive familial intrahepatic cholestasis (PFIC) with normal/low gamma-glutamyl transferase (GGT). In this report, we discuss the case of a nine-month-old girl with low-GGT cholestasis whose next-generation sequencing (NGS) showed a homozygous splicing variation (c.3045+3A>T) on the MYO5B (NM_001080467) gene, which was a novel mutation. We identified that this mutation had a disease-causing effect in silico analysis.