Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms

• Published in: Gastroenterology (New York, N.Y. 1943) Vol. 161; no. 1; pp. 287 - 300.e16
• Main Authors: Pham, Duc-Hung, Kudira, Ramesh, Xu, Lingfen, Valencia, C. Alexander, Ellis, Jillian L., Shi, Tiffany, Evason, Kimberley J., Osuji, Immaculeta, Matuschek, Nelson, Pfuhler, Liva, Mullen, Mary, Mohanty, Sujit K., Husami, Ammar, Bull, Laura N., Zhang, Kejian, Wali, Sami, Yin, Chunyue, Miethke, Alexander
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2021
• Subjects: Bile Duct Paucity; Mouse; Progressive Familial Intrahepatic Cholestasis; Zebrafish; ABC; WES; ALP; ALT; EtOH; mRNA; MRP; EGFP; bp; Progressive Familial Intrahepatic Cholestasis; GFP; TUNEL; Bile Duct Paucity; WT; CA; CRISPR; AST; BSEP; H&E; CK; Zebrafish; ChiLDReN; 4-OHT; CCHMC; Mouse; GGT; PFIC; Anxa4; PCR

The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. Whole-exome (n = 4) and candidate gene...