Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel

Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS. Methods: From August 2016 to August 2022, 14 children with ALGS were enrolled in this retrospective study. Clinical and related data were obtained from medical records. Results: Among the 14 patients, 11 were males and 3 were females. The age of first manifestation of liver disease mean (Q1, Q3) was 0.4 (0.1, 37.0) months, and the age of diagnosis mean (Q1, Q3) was 5.6 (2.4, 48.5) months. Cholestasis was seen in 14 patients, cardiac defects in eight, characteristic facial features in 11, skeletal abnormalities in six, and renal abnormality in one. Among eight patients who underwent ophthalmological examination, posterior embryotoxon was seen in two. We identified 12 different Conclusions: ALGS presents a variety of clinical manifestations. Some patients may be misdiagnosed with biliary atresia due to bile duct proliferation in liver biopsies along with biochemical abnormalities. Genetic testing is helpful for early diagnosis.