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Article

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

The New England journal of medicine - 22 Dec 2011

Boyer Olivia, Nevo Fabien, Plaisier Emmanuelle, Funalot Benoit, Gribouval Olivier, Benoit Geneviève, Huynh Cong Evelyne, Arrondel Christelle, Tête Marie-Josèphe, Montjean Rodrick, Richard Laurence, Karras Alexandre, Pouteil-Noble Claire, Balafrej Leila, Bonnardeaux Alain, Canaud Guillaume, Charasse Christophe, Dantal Jacques, Deschenes Georges, Deteix Patrice, Dubourg Odile, Petiot Philippe, Pouthier Dominique, Leguern Eric, Guiochon-Mantel Anne, Broutin Isabelle, Gubler Marie-Claire, Saunier Sophie, Ronco Pierre, Vallat Jean-Michel, Alonso Miguel Angel, Antignac Corinne, Mollet Géraldine

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22187985
DOI: 10.1056/NEJMoa1109122

Genes

INF2
CDC42
MAL
MPZ
PMP22

Provenance

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Related research

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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.PMID 22187985Read ↗

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.Semantic proximity Read ↗

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.Semantic proximity Read ↗

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.Semantic proximity Read ↗

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

The formin INF2 in disease: progress from 10 years of research.Semantic proximity Read ↗

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.Semantic proximity Read ↗

INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.Semantic proximity Read ↗

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

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

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.Semantic proximity Read ↗

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.Semantic proximity Read ↗

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