Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II.
- Author:
Gui-Zhi LIN
1
;
Jian-Wu QIU
;
Ying CHENG
;
Wei-Xia LIN
;
Yuan-Zong SONG
Author Information
1. Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China. songyuanzong@vip.tom.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(9):758-764
- CountryChina
- Language:Chinese
-
Abstract:
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.
