Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.

doi:10.1681/ASN.2010050518

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Article

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.

Journal of the American Society of Nephrology : JASN - 1 Feb 2011

Boyer Olivia, Benoit Geneviève, Gribouval Olivier, Nevo Fabien, Tête Marie-Josèphe, Dantal Jacques, Gilbert-Dussardier Brigitte, Touchard Guy, Karras Alexandre, Presne Claire, Grunfeld Jean-Pierre, Legendre Christophe, Joly Dominique, Rieu Philippe, Mohsin Nabil, Hannedouche Thierry, Moal Valérie, Gubler Marie-Claire, Broutin Isabelle, Mollet Géraldine, Antignac Corinne

Abstract excerpt

The recent identification of mutations in the INF2 gene, which encodes a member of the formin family of actin-regulating proteins, in cases of familial FSGS supports the importance of an intact actin cytoskeleton in podocyte function. To determine better the prevalence of INF2 mutations in autosomal dominant FSGS, we screened 54 families (78 patients) and detected mutations in 17% of them. All mutations were...

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Identifiers

PMID: 21258034
DOI: 10.1681/ASN.2010050518
PMCID: PMC3029896

Genes

INF2
IQGAP1

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Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.PMID 21258034Read ↗

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