Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Lili CaoXiuxin LingJianguo YanDanni FengYi DongZhiqiang XuFuchuan WangShishu ZhuYinjie GaoZhenhua CaoMin ZhangPublished in: Orphanet journal of rare diseases (2024)
ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. Biallelic ABCB4 mutation carriers tended to severe PFIC3, which mostly occurs in children; while ABCB4 non-biallelic variants can lead to milder ICP, LACP, DILI or overlapping, mostly in adults. Thus, the ABCB4 genotype has a specific correlation with the phenotype, but there are exceptions. Non-biallelic null mutations can cause severe diseases. The mechanisms underlying this genetic phenotype require further investigation.