Genetic diagnosis of progressive familial intrahepatic cholestasis type 2
10.3969/j.issn.1000-3606.2013.10.002
- VernacularTitle:进行性家族性肝内胆汁淤积症2型患儿的基因诊断
- Author:
Guorui HU
;
Bixia ZHENG
;
Zhifeng LIU
;
Yu JIN
- Publication Type:Journal Article
- Keywords:
intrahepatic cholestasis;
ABCB11 gene;
bile salt export pump;
genetic diagnosis
- From:
Journal of Clinical Pediatrics
2013;(10):905-909
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To investigate the clinical features of progressive familial intrahepatic cholestasis type 2 (PFIC2) and to illustrate the importance of genetic diagnosis. Methods The mutations in 27 exons of ABCB11 encoding bile salt export pump (BSEP) were identiifed using polymerase chain reaction (PCR) and direct DNA sequencing in 6 children with suspected PFIC2. The pathogenicity of the newly identiifed mutations were predicted by SIFT, PolyPhen-2, SNPs&GO software. The clini-cal features and laboratory examinations were reviewed. Results Four disease-causing mutations, p.R928*, p.E554K, p.R575Q and p.Y337H were identiifed, and the last three mutations were novel. These three kinds of novel mutations can cause the disease. Two children with genetic diagnosis had such manifestations as onset within a month after birth, jaundice, hepatosplenomegaly, upset, increased levels of total bilirubin and direct bilirubin, GGT<100 U/L and high levels of total bile acid. Conclusions Genetic diagnosis is a potent tool for clinical diagnosis of PFIC2.
