A retrospective study published in BMC Pediatrics identified particularities in Chinese children with Alagille syndrome (ALGS), including a unique variants spectrum and the absence of any ocular symptoms.

According to the study’s authors, “the system of graded diagnosis and treatment in China is not good enough. Almost all children with severe cholestasis will choose the best hospital for the first diagnosis. Through this study, we realized that the primary pediatricians’ cognition of ALGS is insufficient, which is why we wrote this manuscript.”

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Out of 10 ALGS patients (age range, 1-72 months), 9 had alterations in the JAG1 gene, including nonsense pathogenic variants (n=5), frameshift pathogenic variants (n=3), and a splicing pathogenic variant. Only 2 patients had the same genetic mutation and 6 of the variants identified were novel. The mutations were distributed along the exons that constitute the coding region of JAG1. In addition, 1 patient had a novel nonsense pathogenic variant of the NOTCH2 gene.

The main clinical manifestations observed in the study cohort were cholestasis (80%), heart disease (70%), and facial features (70%). All patients had liver involvement, with hepatomegaly and simple hepatic dysfunction being observed in 70% and 20% of patients, respectively.

Heart manifestations included aortic dysplasia (14.3%), aortic stenosis (14.3%), pulmonary artery stenosis (42.8%), atrial septal defect (14.3%), and ventricular septal defect (14.3%). Moreover, 70% of patients experienced epileptic seizure, 40% had butterfly vertebrae, and 30% had kidney involvement, including rough renal parenchyma and hydronephrosis of the left kidney. None of the patients had abnormal values in urinalysis or ophthalmological manifestations.

Sixty percent of patients had hypercholesteremia. Median levels of total bilirubin, direct bilirubin, total bile acid, and gamma-glutamyltranspeptidase were elevated. Furthermore, 40% of patients were small for gestational age (ie, birth weight below the 10th percentile).


Chen Y, Sun M, Teng X. Clinical and genetic analysis in Chinese children with Alagille syndrome. BMC Pediatr. Published online November 29, 2022. doi:10.1186/s12887-022-03750-z