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

We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.

Source: The Journal of Pediatrics - April 13, 2020 Category: Pediatrics Authors: Tomoko Uehara, Mamiko Yamada, Shuichiro Umetsu, Hiroshi Nittono, Hisato Suzuki, Tomoo Fujisawa, Toshiki Takenouchi, Ayano Inui, Kenjiro Kosaki Tags: Brief Reports Source Type: research