Background: The early diagnosis of ALGS is crucial because the disease is often a variable expression, and the symptoms are similar to other pathologies, especially biliary tract atrophy. The primary objective of this study was determined of the ratio of JAG1 and NOTCH2 gene mutation characteristics in children with Alagille syndrome (ALGS).
Methods: Batch description of the cases was performed on 32 pediatric patients with ALGS treated at Childrend’s Hospital 1 from February 2015 to December 2018.
Results: Based on the study of 32 children with ALGS, the following results were obtained: The JAG1 gene mutation detection rate is 75%; No instances of NOTCH2 gene mutation were detected. The meaningless mutation rate was 33%, the false means was 29%, the split frame was 21%, the cutting connector was 13%, and the loss of the small segment was 4%. Mutations were distributed on most exons, and the surge screening ratio of JAG1 patient’s relatives with mutations was 23.5%.
Conclusion: Results indicated that early diagnosis of ALGS based on JAG1 or NOTCH2 mutations is possible.
ALGS, Alagille syndrome, gene mutation, JAG1, NOTCH2, Vietnam.