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Article

Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2018

Büscher Anja K, Celebi Nora, Hoyer Peter F, Klein Hanns-Georg, Weber Stefanie, Hoefele Julia

Abstract excerpt

BACKGROUND: In 2010, INF2 mutations were associated with autosomal-dominant focal segmental glomerulosclerosis (FSGS), clinically presenting with moderate proteinuria in adolescence. However, in the meantime, cases with more severe clinical courses have been described, including progression to end-stage renal disease (ESRD) during childhood. INF2 mutations in patients with isolated FSGS are clustered in exons 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29038887
DOI: 10.1007/s00467-017-3811-4

Genes

INF2
ACTN4
COQ6
LAMB2
NPHS1
NPHS2
PLCE1
TRPC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.PMID 29038887Read ↗

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