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Title: Deletion of interleukin enhancer binding factor 2 (ILF2) resulted in defective biliary development and bile flow blockage
Authors: Cheung, Y
Wu, Z
GarciaBarcelo, MM
Tam, PKH
Ma, ACH 
Lui, VCH
Issue Date: 2020
Source: Journal of pediatric surgery, 2020, v. 56, no. 2, p. 352-359
Abstract: Purpose: Biliary atresia (BA) is a devastating obstructive bile duct disease of newborns. BA has the highest incidence in Asians (1/5000), and its pathogenesis is unclear. We identified BA-private rare copy number variants (CNVs; 22 duplications and 6 deletions). ILF2 gene locates in the chromosome region (Chr1:153410347–153,634,058) which was deleted in a nonsyndromic BA patient. However, it is still not known whether ILF2 plays a role in hepatobiliary development and its deletion impacts on the bile duct development.
Methods: To investigate if ILF2 is required for biliary development, we knock-out the zebrafish homologs of ILF2 by CRISPR/Cas9 approach, and discover that deletion of ILF2 causes a defective biliary development and a lack of bile flow from the liver to the gall bladder in zebrafish, which is a resemblance of phenotypes of BA.
Results: Our data indicate that ILF2 gene is required for biliary development; deletion of ILF2 impairs bile duct development and could contribute to BA pathogenesis. This will be the first study to functionally evaluate the genes interfered by BA-private CNVs in hepatobiliary development and in BA pathogenesis.
Conclusions: Such functional study may reveal the potential value of these BA-private CNVs in the disease pathogenesis for BA. Level of evidence: N/A (animal and laboratory study).
Keywords: Bile duct
Biliary atresia
Publisher: W.B. Saunders
Journal: Journal of pediatric surgery 
ISSN: 0022-3468
DOI: 10.1016/j.jpedsurg.2020.06.032
Rights: © 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license(
The following publication Cheung, Y., Wu, Z., Garcia-Barcelo, M. M., Tam, P. K. H., Ma, A. C. H., & Lui, V. C. H. (2021). Deletion of interleukin enhancer binding factor 2 (ILF2) resulted in defective biliary development and bile flow blockage. Journal of Pediatric Surgery, 56(2), 352-359, is available at
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