biostudies-literatureUnknown13(6)Gezdirici A<h4>Introduction</h4>Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers an useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in <i>USP53</i> have recently been reported in cholestasis phenotype.<h4>Methods</h4>In this study, we aimed to characterize clinical findings and biological insights on a novel <i>USP53</i> splice variant causing cholestasis phenotype and provided a review of the literature. We performed whole-exome sequencing and then confirmed it with Sanger sequencing. In addition, as a result of in silico analyses and cDNA analysis, we showed that the USP53 pMolecular syndromology471-484https://www.ebi.ac.uk/biostudies/studies/S-EPMC9843568biostudies-literatureBiallelic Novel <i>USP53</i> Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.PMC9843568Akbulut EOzguven BYGezdirici AKalaycik Sengul ODogan MfalseBiallelic Novel <i>USP53</i> Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.<h4>Introduction</h4>Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers an useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in <i>USP53</i> have recently been reported in cholestasis phenotype.<h4>Methods</h4>In this study, we aimed to characterize clinical findings and biological insights on a novel <i>USP53</i> splice variant causing cholestasis phenotype and provided a review of the literature. We performed whole-exome sequencing and then confirmed it with Sanger sequencing. In addition, as a result of in silico analyses and cDNA analysis, we showed that the USP53 p2023-01-01T00:00:00Z2023 Jan2025-05-29T19:18:39.017Z2024-11-05T20:28:59.015ZS-EPMC98435683666003310.1159/000523937