Although several hereditary variations of cholestasis have been identified, in a fraction of cholestasis patients, the genetic aetiology of the condition remains unclear. Full exome sequencing (WES) has been undertaken in DNA from individuals diagnosed with cholestase from progressive family intrahepatic cholestasis to benign recurrent intrahepatic cholesterol at various locations when no mutations of illness have been discovered in the known cholestasis genes. Candidate genes were then tested for the next generation sequence(NGS) in a larger patient sample. Disease characteristics were gathered from available medical records from presentations and follow-ups. The USP53 screening of four more USP53 mutations has been detected in a larger number of individuals. Six of the seven patients had mutations of deletion, and one patient had a mutation of missense, including three siblings, all with the deletion that disturbed nearby MYOZ2. Early childhood to adolescence ranged from beginning age. Cholestasis was often mild, intermittent and reactive to medicine from a biochemical perspective. However, all four patients that were biopsied were present with liver fibrosis and the last ultrasound showed splenomegaly in 5 of 7.
In two groups, liver disease and mutation in USP53 were recently found. In 7 more cholestase patients in 5 families, researchers have now identified biallelic mutation in USP53. Most people showed chronic liver damage and long-term monitoring is recommended.
REFERENCE: https://journals.lww.com/jpgn/Fulltext/2021/05000/Cholestasis_Due_to_USP53_Deficiency.7.aspx
