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Article

Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 May 2008

Choi Hyun Jin, Lee Beom Hee, Cho Hee Yeon, Moon Kyung Chul, Ha Il Soo, Nagata Michio, Choi Yong, Cheong Hae Il

Abstract excerpt

Mutations in the ACTN4 gene cause focal segmental glomerulosclerosis (FSGS), which shows autosomal dominant inheritance (Online Mendelian Inheritance in Man No. 603278, FSGS1). Most patients with a diagnosis of FSGS1 show a mild to moderate degree of proteinuria during adolescence or later, and some patients gradually progress to end-stage renal disease. Here, we report a familial case of FSGS1 in which 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18436095
DOI: 10.1053/j.ajkd.2008.01.018

Genes

ACTN4
NPHS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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