https://www.ncbi.nlm.nih.gov/pubmed/32304554 Cholestasis
J Pediatr Gastroenterol Nutr. 2020 Apr 16. doi: 10.1097/MPG.0000000000002740. [Epub ahead of print]

Mutations in Myosin 5B (MYO5B) in Children with Early Onset Cholestasis.

Cockar I1, Foskett P2, Strautnieks S2, Clinch Y2, Fustok J2, Rahman O2, Sutton H1,3, Mtegha M4, Fessatou S5, Kontaki E5, Papaevangelou V5, Deheragoda M2, Thompson RJ1,3, Grammatikopoulos T1,3.

Abstract

OBJECTIVES:
Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B.

METHODS:
Clinical, laboratory and histological data were collected from patients with cholestasis and pathogenic mutations in MYO5B, found by Next Generation Sequencing (NGS), but with minimal gastrointestinal disease.

RESULTS:
Six patients (3 M) were identified. Median age at presentation was 19 months (range, 3-92). Presenting features were jaundice, pale stools, pruritus and failure to thrive. Patient 5 and 6 had intractable diarrhoea until the age of 3 and 7 years, respectively, but currently are on full enteral diet with no intestinal symptoms. Median values for serum total bilirubin were 55 μmol/L(2-500), alanine aminotransferase 73I IU/L(32-114), γ-glutamyltransferase 7 IU/L(7-10) and serum bile acids 134 μmol/L(18-274). Three patients underwent one or more types of biliary diversion for symptom control. Median follow up was 5 years (2-22). At most recent follow up they all reported pruritus while on antipruritics. Patient 1 had a liver transplant.

CONCLUSIONS:
We identified six patients, with mutations in MYO5B, early onset cholestasis and pruritus, with variable response to biliary diversion without typical MVID.