Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 758-764, 2018.
Article
in Zh
| WPRIM
| ID: wpr-690094
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WPRO
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.
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WPRIM
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2018
Type:
Article