biostudies-literatureUnknown64(12)Ahn SProgressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial transporters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, <i>USP53</i> has been identified as one of the novel genes associated with PFIC. Herein, we report a 21-year-old Korean male patient with a late-onset PFIC. Initial work-up, including whole genome sequencing, did not find any associated gene. However, reviewing sequencing data identified novel compound heterozygous variants in splicing site of <i>USP53</i> (NM_001371395.1:c.972+3_972+6del, and c.973-1G>A). The patient's bilirubin level fluctuated during the disease course. At 4.5 years after the initial presentation, the patient's symptom and high bilirubin level were normalizedYonsei medical journal745-749https://www.ebi.ac.uk/biostudies/studies/S-EPMC10681827biostudies-literatureThe First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel <i>USP53</i> Splicing Variants by Next Generation Sequencing.PMC10681827Choi JJeong SHAhn SfalseThe First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel <i>USP53</i> Splicing Variants by Next Generation Sequencing.Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial transporters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, <i>USP53</i> has been identified as one of the novel genes associated with PFIC. Herein, we report a 21-year-old Korean male patient with a late-onset PFIC. Initial work-up, including whole genome sequencing, did not find any associated gene. However, reviewing sequencing data identified novel compound heterozygous variants in splicing site of <i>USP53</i> (NM_001371395.1:c.972+3_972+6del, and c.973-1G>A). The patient's bilirubin level fluctuated during the disease course. At 4.5 years after the initial presentation, the patient's symptom and high bilirubin level were normalized2023-01-01T00:00:00Z2023 Dec2025-05-29T21:47:00.983Z2025-05-29T21:47:00.983ZS-EPMC106818273799274710.3349/ymj.2023.0161