Clinical features and JAGI gene analysis of 2 cases with Alagille syndrome
10.3760/cma.j.issn.2095-428X.2015.20.012
- VernacularTitle:Alagille 综合征2例临床特征及 JAGI 基因分析
- Author:
Hongmei GUO
;
Bixia ZHENG
;
Mei LI
- Publication Type:Journal Article
- Keywords:
Alagille syndrome;
Bile duct paucity;
Cholestasis;
Child;
Molecular diagnosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2015;(20):1561-1564
- CountryChina
- Language:Chinese
-
Abstract:
Objective To carry out the detection of JAGI gene in children with chronic cholestasis and to im-prove the diagnostic level and understanding of Alagille syndrome. Methods Two cases of chronic cholestasis with multiple organ involvement were selected as the research subjects and their clinical data,laboratory test results were col-lected. Two milliliter peripheral intravenous heparin anticoagulan blood was drawn from each patient. All fragments of 26 exons of the JAGI gene were amplified by polymerase chain reaction - sequence based on typing method. Results One patient with chronic cholestasis,heart murmur and dysmorphic face showed bile duct paucity in liver biopsy and a novel heterozygous mutation c. 809 809delG(p. G270Dfs*142)in 6 exon. Abnormal amino acid replaced JAG1 protein and resulted in truncation of the JAG1 protein. The part of epidermal growth factor(EGF)like repeats region loss and the cysteine rich region completely lost. One case with typical chronic cholestasis and dysmorphic face showed a known IVS20 - 2 5delTAAG heterozygous mutation which resulted in splice site changes. Conclusion A novel JAGI gene mutation c. 809 809delG(p. G270Dfs*142)is helpful to screen JAGI gene of Notch signal transduction pathway for chronic cholestasis with multiple organs involvement in children.
