{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["64(12)"],"submitter":["Ahn S"],"pubmed_abstract":["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 normalized"],"journal":["Yonsei medical journal"],"pagination":["745-749"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10681827"],"repository":["biostudies-literature"],"pubmed_title":["The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel <i>USP53</i> Splicing Variants by Next Generation Sequencing."],"pmcid":["PMC10681827"],"pubmed_authors":["Choi J","Jeong SH","Ahn S"],"additional_accession":[]},"is_claimable":false,"name":"The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel <i>USP53</i> Splicing Variants by Next Generation Sequencing.","description":"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 normalized","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2025-05-29T21:47:00.983Z","creation":"2025-05-29T21:47:00.983Z"},"accession":"S-EPMC10681827","cross_references":{"pubmed":["37992747"],"doi":["10.3349/ymj.2023.0161"]}}