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

Nihal Uyar Aksu; Orhan Görükmez; Özlem Görükmez; Ayşen Uncuoğlu

doi:10.7759/cureus.19326

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

Cureus. 2021 Nov 7;13(11):e19326. doi: 10.7759/cureus.19326. eCollection 2021 Nov.

Authors

Nihal Uyar Aksu¹, Orhan Görükmez², Özlem Görükmez², Ayşen Uncuoğlu³

Affiliations

¹ Pediatric Gastroenterology, Health Sciences University Derince Training and Research Hospital, Kocaeli, TUR.
² Genetics, Bursa State Hospital, Bursa, TUR.
³ Pediatric Gastroenterology, Kocaeli University, Kocaeli, TUR.

Abstract

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.

Keywords: genetic mutation; myo5b; normal/low ggt; novel mutation; progressive familial intrahepatic cholestasis.

Publication types

Case Reports