Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.

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Abstract

Focal segmental glomerulosclerosis (FSGS) is an etiologically heterogeneous disorder. Genetic FSGS may be either limited to the kidney or part of a genetic syndrome with other systemic involvement. At least 21 and 34 genes have been reported for renal-limited and syndromic FSGS, respectively. The TRIM8 gene encodes a tripartite motif protein, which is an E3 ubiquitin-protein ligase that promotes proteasomal degradation of the suppressor of cytokine signaling 1 (SOCS1) and participates in the activation of interferon-gamma signaling. The TRIM8 gene is expressed in various tissues including the kidney and the central nervous system (CNS). An association between a mutation in the TRIM8 gene and childhood-onset FSGS has not been well established.

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Journal

Journal ID (iso-abbrev): Pediatr Nephrol

Title: Pediatric nephrology (Berlin, Germany)

Publisher: Springer Science and Business Media LLC

ISSN (Electronic): 1432-198X

ISSN (Print): 0931-041X

Publication date (Electronic): June 2020

Volume: 35

Issue: 6

Affiliations

[1 ] Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

[2 ] Department of Pathology, Keck School of Medicine, LAC+USC Medical Center, University of Southern California, Los Angeles, CA, USA.

[3 ] Departments of Pediatrics and Neurology, LAC+USC Medical Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

[4 ] Pediatric Nephrology Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

[5 ] Genetics Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, 1801 Marengo Street General Laboratory Building Rm1G24, Los Angeles, CA, 90033, USA. syano@usc.edu.

Article

Publisher Item ID: 10.1007/s00467-020-04525-3

DOI: 10.1007/s00467-020-04525-3

PubMed ID: 32193649

SO-VID: cab5fd32-2b62-4078-b42f-37858a657133

History

Keywords: Immunohistochemistry,Intellectual disability,Seizure,Suppressor of cytokine signaling 1 (SOCS1),Tripartite motif protein (TRIM),Nonsense mutation,Nephrotic syndrome

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Keywords: Immunohistochemistry, Intellectual disability, Seizure, Suppressor of cytokine signaling 1 (SOCS1), Tripartite motif protein (TRIM), Nonsense mutation, Nephrotic syndrome

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