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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 Zhang
Published 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.
Keyphrases
  • copy number
  • genome wide
  • drug induced
  • liver injury
  • intellectual disability
  • young adults
  • dna methylation
  • early onset
  • gene expression
  • autism spectrum disorder
  • genome wide identification
  • transcription factor