Year 2019 / Volume 111 / Number 1
Case Report
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants

76-79

DOI: 10.17235/reed.2018.5828/2018

Minh-Tuan Huynh, Jean-Louis Delaunay, Laure Muller, Christophe Corpechot, Cong Toai Tran, Véronique Barbu,

Abstract
Low phospholipid-associated cholelithiasis and intrahepatic cholestasis of pregnancy are two MDR3-related inherited liver disorders caused by biallelic or monoallelic ABCB4 loss-of-function variants. Low phospholipid-associated cholelithiasis is clinically characterized by the early onset of symptomatic cholelithiasis in young adults while intrahepatic cholestasis of pregnancy is a distinct clinical entity associated with adverse fetal outcomes. Of note, patients carrying ABCB4 sequence variations commonly exhibit phenotypic expression over a wide continuum due to environmental and hormonal contributing factors and genetic modifiers. Patients with an early diagnosis of MDR3-related diseases could benefit from ursodeoxycholic acid treatment in order to prevent acute and chronic complications as well as adverse pregnancy outcomes. We herein report five patients with an overlapping phenotype from low phospholipid-associated cholelithiasis to intrahepatic cholestasis of pregnancy, harboring five ABCB4 missense variants, four of which were novel. Our study highlights the phenotypic and genetic heterogeneity of inherited cholestatic liver diseases and also expands the mutation spectrum of ABCB4 sequence variations in adult cholestatic liver diseases.
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24/07/2024 15:23:11
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Huynh M, Delaunay J, Muller L, Corpechot C, Tran C, Barbu V, et all. Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants. 5828/2018


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Publication history

Received: 14/07/2018

Accepted: 30/09/2018

Online First: 19/11/2018

Published: 17/01/2019

Article revision time: 67 days

Article Online First time: 128 days

Article editing time: 187 days


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