Published online Jan 14, 2015. doi: 10.3748/wjg.v21.i2.699
Peer-review started: April 20, 2014
First decision: May 13, 2014
Revised: June 10, 2014
Accepted: July 11, 2014
Article in press: July 11, 2014
Published online: January 14, 2015
Core tip: This study described a 17-year-old Chinese male patient with a 2 years history of intrahepatic cholestasis of unknown etiology who was later diagnosed with progressive familial intrahepatic cholestasis type 3 through clinical findings and gene analysis which revealed multiple mutations in the ABCB4 gene. One novel mutation of the ABCB4 gene p.G602W has also been identified. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2, with a score of 0.986, and was predicted to affect protein function with a SIFT score of 0.01.