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Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II
LIN Gui-Zhi, QIU Jian-Wu, CHENG Ying, LIN Wei-Xia, SONG Yuan-Zong
Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (9) : 758-764.
PDF(3836 KB)
PDF(3836 KB)
Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II
Progressive familial intrahepatic cholestasis type Ⅱ (PFIC-2) is an autosomal recessive disorder caused by biallelic variants of ABCB11 gene. This paper reports the clinical and laboratory features of a pediatric patient with PFIC-2. The patient was a 2.4-month-old male infant with jaundice and hepatomegaly as the main clinical manifestations. The serum levels of total bilirubin, direct bilirubin and total bile acids were increased, while the serum γ-glutamyl transpeptidase (GGT) level was normal. Next generation sequencing revealed two missense variants, c.1493T > C(p.Ile498Thr) and c.1502T > G(p.Val501Gly), in the ABCB11 gene of the patient, which were inherited from his father and mother, respectively. The latter was a novel variant which was predicted to be pathogenic by using a variety of bioinformatic tools, and the affected p.Val501 residue was highly conserved in 112 homologous peptides.
Progressive familial intrahepatic cholestasis type II / ABCB11 gene / Genetic mutation / Child
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