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Article

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.

Kidney international - 1 Jan 2013

Sanchez-Ares Maria, Garcia-Vidal Marina, Antucho Espinosa-Estevez, Julio Pardo, Eduardo Vazquez-Martul, Lens Xose M, Garcia-Gonzalez Miguel A

Abstract excerpt

Focal and segmental glomerulosclerosis (FSGS) is a histological pattern that has several etiologies, including genetics. The autosomal dominant form of FSGS is a heterogenic disease caused by mutations within three known genes: α-actinin 4 (ACTN4), canonical transient receptor potential 6 (TRPC6), and the inverted formin 2 (INF2) gene. More recently, INF2 mutations have also been attributed to Charcot-Marie-Tooth...

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Source

Identifiers

PMID: 22971997
DOI: 10.1038/ki.2012.325

Genes

INF2
ACTN4
TRPC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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