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.

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. (Hepatology 2017;65:164-173).

• Authors: Emmanuel Gonzales, Sarah A Taylor, Anne Davit-Spraul, Alice Thébaut, Nadège Thomassin, Catherine Guettier, Peter F Whitington, Emmanuel Jacquemin
• Journal: Hepatology (Baltimore, Md.) (Hepatology) Vol. 65 Issue 1 Pg. 164-173 (01 2017) ISSN: 1527-3350 [Electronic] United States
• PMID: 27532546 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2016 by the American Association for the Study of Liver Diseases.

Chemical References

• MYO5B protein, human
• gamma-Glutamyltransferase
• Myosin Type V
• Myosin Heavy Chains

Topics

• Cholestasis, Intrahepatic (blood, enzymology, genetics)
• Female
• Humans
• Infant
• Malabsorption Syndromes
• Male
• Microvilli (pathology)
• Mucolipidoses
• Mutation
• Myosin Heavy Chains (genetics)
• Myosin Type V (genetics)
• gamma-Glutamyltransferase (blood)