MYO5B Mutations Cause Cholestasis With Normal Serum Gamma-Glutamyl Transferase Activity in Children Without Microvillous Inclusion Disease

被引：108

作者：

Gonzales, Emmanuel ^{[1
,2
,3
]}

Taylor, Sarah A. ^{[4
]}

Davit-Spraul, Anne ^{[5
]}

Thebaut, Alice ^{[1
,2
,3
]}

Thomassin, Nadege ^{[6
]}

Guettier, Catherine ^{[7
]}

Whitington, Peter F. ^{[4
]}

Jacquemin, Emmanuel ^{[1
,2
,3
]}

机构：

[1] Univ Paris Sud, Bicetre Univ Hosp, Assistance Publique Hopitaux Paris, Pediat Hepatol & Pediat Liver Transplantat Unit, Le Kremlin Bicetre, France

[2] Univ Paris Sud, Bicetre Univ Hosp, Assistance Publique Hopitaux Paris, Natl Reference Ctr Rare Pediat Liver Dis, Le Kremlin Bicetre, France

[3] Univ Paris Sud, INSERM, UMR S1174, Hepatinov, Orsay, France

[4] Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Chicago, IL 60611 USA

[5] Univ Paris Sud, Bicetre Univ Hosp, Assistance Publ Hopitaux Paris, Dept Biochem, Le Kremlin Bicetre, France

[6] Grenoble Univ Hosp, Dept Pediat, Grenoble, France

[7] Univ Paris Sud, Bicetre Univ Hosp, Assistance Publ Hopitaux Paris, Dept Pathol, Le Kremlin Bicetre, France

来源：

HEPATOLOGY | 2017年 / 65卷 / 01期

关键词：

MYOSIN VB; BILE; TRAFFICKING; DYNAMICS; RAB11A; ATP8B1; PFIC1;

D O I：

10.1002/hep.28779

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页码：164 / 173

页数：10

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