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MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease
Author(s) -
Gonzales Emmanuel,
Taylor Sarah A.,
DavitSpraul Anne,
Thébaut Alice,
Thomassin Nadège,
Guettier Catherine,
Whitington Peter F.,
Jacquemin Emmanuel
Publication year - 2017
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.28779
Subject(s) - progressive familial intrahepatic cholestasis , cholestasis , hepatology , medicine , gamma glutamyltransferase , phenotype , gastroenterology , disease , biology , gene , genetics , enzyme , biochemistry , transplantation , liver transplantation
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. Conclusion: 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. (H epatology 2017;65:164‐173).