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Article

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.

Genes - 14 Oct 2021

Shatokhina Olga, Semenova Natalia, Demina Nina, Dadali Elena, Polyakov Alexander, Ryzhkova Oxana

Abstract excerpt

Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-γ-GT (GGT) cholestasis. Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. The proband harbored a novel c.1017_1057del (p.(Cys339TrpfsTer7)) mutation in the ubiquitin carboxyl-terminal hydrolase (UCH) domain of USP53; we...

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PMID: 34681012
DOI: 10.3390/genes12101618
PMCID: PMC8535307

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