Fig. 1: Mutations in KIF12 cause high GGT neonatal cholestasis/sclerosing cholangitis. | Genetics in Medicine

Fig. 1: Mutations in KIF12 cause high GGT neonatal cholestasis/sclerosing cholangitis.

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

Fig. 1

a Pedigrees of the families with KIF12-related high gamma glutamyltransferase (GGT) neonatal cholestasis and sclerosing cholangitis. b AgileMultiIdeogram showing a single locus on chr9 (112862200–117180500) spanning KIF12. c–e Histopathology at age of 14 months of patient 17DG0404. c Liver tissue showed biliary cirrhosis (H&E, 10×). d Trichrome stain is highlighting the degree of fibrosis, (TC, 10×). e Illustrates the degree of fibrosis surrounding the bile duct branches before complete destruction (H&E 40×). f~ Axial T2 weighted image from magnetic resonance cholangiopancreatography (MRCP) examination revealed intervening short segmental strictures and slight dilatation in the central intrahepatic bile ducts alternating with normal ducts resulted in beaded appearance (red arrow). g Sanger sequencing showing the three homozygous variants in KIF12. h Cartoon representing protein structure of KIF12 (513 amino acids in size, the kinesin motor domain [1–225] mediates intracellular transport of organelles and cell division) and the corresponding location of the three variants

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