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Article

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.

Journal of neuropathology and experimental neurology - 1 Sept 2017

Gentil Benoit J, O'Ferrall Erin, Chalk Colin, Santana Luis F, Durham Heather D, Massie Rami

Abstract excerpt

Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor...

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Identifiers

PMID: 28859335
DOI: 10.1093/jnen/nlx062
PMCID: PMC6251583

Genes

FIG4
TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.PMID 28859335Read ↗

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Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Semantic proximity Read ↗

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.Semantic proximity Read ↗

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Semantic proximity Read ↗

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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Semantic proximity Read ↗

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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.Semantic proximity Read ↗

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