Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

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(Left) Liver biopsy samples obtained from the patient with infantile intrahepatic cholestasis and biallelic LSR mutations reported herein. (Right) Liver biopsy samples obtained from a 1-year, 7-month-old girl with borderline liver enlargement and normal liver function, which served as the control samples in the immunohistochemical and electron microscopy studies. A, Histological findings of the liver biopsy samples assessed by H&E staining, Masson trichrome staining, and immunostaining with anti-cytokeratin 7 antibodies and anti-LSR antibodies. Note the dystrophic regression with fibrosis (Masson trichrome staining), oxyphilic degeneration, ductular reaction (immunostaining with anti-cytokeratin 7 antibody), and absence of LSR expression (immunostaining with anti-LSR antibody). Arrows indicate the expression of LSR at the tight junctions in the liver samples from the control patient. B, Electron micrographs of liver biopsy samples obtained from the patient reported here (left) and the control patient (right). Note the congestion of the liver with uniformly dense bile (white arrows) in the patient with biallelic LSR mutations compared with the control patient.

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