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World J Gastroenterol. Jul 14, 2026; 32(26): 119398
Published online Jul 14, 2026. doi: 10.3748/wjg.v32.i26.119398
Published online Jul 14, 2026. doi: 10.3748/wjg.v32.i26.119398
Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review
Yu-Feng Zheng, Yu-Hang Weng, Yong-Feng Yang, Department of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China
Shun-Xin Li, Clinical Research Center, Department of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China
Co-first authors: Yu-Feng Zheng and Yu-Hang Weng.
Author contributions: Zheng YF and Yang YF designed the study; Zheng YF and Weng YH as co-first authors, they played pivotal and indispensable roles in collecting the clinical data, performing the experiments, acquiring and analyzed the data, and interpreting the data; Li SX helped with the experiments; Zheng YF wrote the manuscript; Weng YH and Yang YF revised the manuscript; all authors approved the final version of the article.
Supported by the National Natural Science Foundation of China, No. 81970454.
Institutional review board statement: This study was approved by the Medical Ethics Committee of Nanjing Hospital Affiliated to Nanjing University of Traditional Chinese Medicine (No. 2021-LY-kt052).
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Data sharing statement: All the available data can be found in the manuscript or Supplementary material.
Corresponding author: Yong-Feng Yang, PhD, Professor, Department of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, No. 1 Zhongfu Road, Gulou District, Nanjing 210003, Jiangsu Province, China. yangyongfeng@njucm.edu.cn
Received: January 27, 2026
Revised: February 22, 2026
Accepted: March 13, 2026
Published online: July 14, 2026
Processing time: 152 Days and 19.6 Hours
Revised: February 22, 2026
Accepted: March 13, 2026
Published online: July 14, 2026
Processing time: 152 Days and 19.6 Hours
Core Tip
Core Tip: This study focuses on two rare ABCB4 intronic variants identified in a clinic through gene sequencing. The clinical characteristics of the patients mainly were cholestasis. And the variants were predicted in silico tools which showed pathogenic. Through literature review, we found two intron variants have not been reported, and there is little research on intron variants. In vitro experiments confirmed that both variants lead to intron retention. These two variants have little effect on ABCB4 messenger RNA and both downregulate multidrug resistance protein 3 expression. Which can explain the clinical pathogenicity of the two cases.