title: Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
abstract: 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.
authors.affiliation: Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors.forename: Hao-Zhe
authors.initials: HZ
authors.lastname: Sun
authors.affiliation: Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Shi
authors.affiliation: Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors.forename: Shun-Cai
authors.initials: SC
authors.lastname: Zhang
authors.affiliation: Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors.forename: Xi-Zhong
authors.initials: XZ
authors.lastname: Shen
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; C095122:multidrug resistance protein 3
keywords: ABCB4; Cholestasis; Gene mutation; Liver disease; Progressive familial intrahepatic cholestasis