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

Tomoko Uehara, Mamiko Yamada, Shuichiro Umetsu, Hiroshi Nittono, Hisato Suzuki, Tomoo Fujisawa, Toshiki Takenouchi, Ayano Inui, Kenjiro Kosaki

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)251-254
Number of pages4
JournalJournal of Pediatrics
Volume221
DOIs
Publication statusPublished - 2020 Jun

Keywords

  • LSR
  • exome sequencing
  • infantile intrahepatic cholestasis
  • tricelluar tight junction

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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