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Article

Autosomal dominant focal segmental glomerulosclerosis by INF2 p.Arg218Trp and p.Ser186Pro mutations: three case reports and literature review.

BMC nephrology - 15 Oct 2025

Guo Shunian, Shang Minghua, Su Chao, Zhuge Yifeng, Wei Wenqian, Rong Shu, Gu Lijie

Abstract excerpt

BACKGROUND: Focal segmental glomerulosclerosis(FSGS) is a histologic lesion of podocyte injury with diverse etiologies including mutations in the inverted formin-2 gene(INF2), which belongs to the formin family and regulates actin cytoskeleton-dependent cellular processes. CASE PRESENTATION: We report two cases of INF2 p.Arg218Trp and one case of p.Ser186Pro, all exhibiting an autosomal dominant(AD) inheritance...

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Source

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Identifiers

PMID: 41094651
DOI: 10.1186/s12882-025-04493-6
PMCID: PMC12522277

Genes

INF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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