Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3

作者：Sun, Hao-Zhe; Shi, Hong^*; Zhang, Shun-Cai; Shen, Xi-Zhong

来源：World Journal of Gastroenterology, 2015, 21(2): 699-703.

DOI：10.3748/wjg.v21.i2.699

• Liver disease
• Cholestasis
• Progressive familial intrahepatic cholestasis
• ABCB4
• Gene mutation

Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology. Liver histology findings are indicative of intrahepatic cholestasis with extensive fibrosis. Genotyping revealed c.175C>T (p.L59L) mutation in exon 4, c.504C>T (p.N168N) mutation in exon 6, c.711A>T (p.I237I) mutation in exon 8, c.874A>T (p.K292X) in exon 9 and a novel mutation, c.1804G>T (p.G602W) in exon 15. Based on these findings, the patient was diagnosed with PFIC3. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2 with a score of 0.986 (sensitivity: 0.54; specificity: 0.94) and was predicted to affect protein function with a SIFT score of 0.01.

• 出版日期2015-1-14
• 单位复旦大学