Fig. 3: USP53 and LSR are mutated in novel syndromic forms of cholestatic liver disease. | Genetics in Medicine

Fig. 3: USP53 and LSR are mutated in novel syndromic forms of cholestatic liver disease.

From: Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

Fig. 3

a Pedigree of family 5 with two affected siblings and their affected cousin with the syndrome of normal gamma glutamyltransferase (GGT) cholestasis and deafness. b Sanger sequencing showing deletion of T in the genomic DNA. c AgileMultiIdeogram showing a single shared region of homozygosity (ROH) on chr4 (118701500–127631100) spanning USP53. d Graphical representation of USP53 protein (1073 amino acids, the UCH domain critically regulates protein turnover by modulating deubiquitinating process). Pathogenic variant (indicated in red) truncates the UCH domain. e Pedigree of family 6 with normal GGT cholestasis, intellectual disability, and short stature. f, g Liver biopsy images of patient 18DG04520 showing multiple portal areas with marked ductal proliferation associated with lymphocytic infiltrate. The hepatocytes show giant cell transformation with feathery degeneration associated with intrahepatic and canalicular cholestasis. h Sanger sequencing showing the identified variant in LSR and a cartoon showing the protein structure (Ig domain plays a role in protein folding and other biological pathways)

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