Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.
Asian People
/ genetics
Bile
/ metabolism
Biopsy
Child, Preschool
Cholestasis, Intrahepatic
/ genetics
Exons
Female
Frameshift Mutation
Humans
Japan
Liver
/ pathology
Liver Cirrhosis
/ pathology
Microscopy, Electron
Receptors, Lipoprotein
/ genetics
Tight Junctions
/ metabolism
Transcription Factors
LSR
exome sequencing
infantile intrahepatic cholestasis
tricelluar tight junction
Journal
The Journal of pediatrics
ISSN: 1097-6833
Titre abrégé: J Pediatr
Pays: United States
ID NLM: 0375410
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
01
10
2019
revised:
03
01
2020
accepted:
30
01
2020
pubmed:
19
4
2020
medline:
27
10
2020
entrez:
19
4
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32303357
pii: S0022-3476(20)30137-2
doi: 10.1016/j.jpeds.2020.01.064
pii:
doi:
Substances chimiques
LSR protein, human
0
Receptors, Lipoprotein
0
Transcription Factors
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
251-254Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.