title: MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
abstract: Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease.
  
  
  
  These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164-173).
authors.affiliation: Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Gonzales
authors.affiliation: Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Taylor
authors.affiliation: Department of Biochemistry, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Davit-Spraul
authors.affiliation: Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Thébaut
authors.affiliation: Department of Pediatrics, Grenoble University Hospital, Grenoble, France.
authors.forename: Nadège
authors.initials: N
authors.lastname: Thomassin
authors.affiliation: Department of Pathology, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Guettier
authors.affiliation: Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
authors.forename: Peter F
authors.initials: PF
authors.lastname: Whitington
authors.affiliation: Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
mesh_terms: D002780:Cholestasis, Intrahepatic / Q000097:blood* / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes; D008297:Male; D008871:Microvilli / Q000473:pathology; D009081:Mucolipidoses; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D024701:Myosin Type V / Q000235:genetics*; D005723:gamma-Glutamyltransferase / Q000097:blood*
chemical_list: C505832:MYO5B protein, human; D005723:gamma-Glutamyltransferase; D024701:Myosin Type V; D018995:Myosin Heavy Chains