Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

doi:10.1086/518428

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Article

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

American journal of human genetics - 1 Jul 2007

Delague Valérie, Jacquier Arnaud, Hamadouche Tarik, Poitelon Yannick, Baudot Cécile, Boccaccio Iréne, Chouery Eliane, Chaouch Malika, Kassouri Nora, Jabbour Rosette, Grid Djamel, Mégarbané Andre, Haase Georg, Lévy Nicolas

Abstract excerpt

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand deformities, and electrophysiological changes. The CMT4H subtype is an autosomal recessive demyelinating form of CMT that was recently mapped to a 15.8-Mb region at chromosome 12p11.21-q13.11, in two consanguineous...

Topics

Amino Acid Sequence
Animals
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 12
Gene Expression
Genes, Recessive
Green Fluorescent Proteins
Guanine Nucleotide Exchange Factors
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Molecular Sequence Data

Mutation

Pedigree

Physical Chromosome Mapping

Rats

Schwann Cells

rho GTP-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 17564959
DOI: 10.1086/518428
PMCID: PMC1950914

Genes

FGD4
FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.PMID 17564959Read ↗

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.Semantic proximity Read ↗

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.Semantic proximity Read ↗

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4HSemantic proximity Read ↗

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.Semantic proximity Read ↗

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.Semantic proximity Read ↗

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.Semantic proximity Read ↗

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.Semantic proximity Read ↗

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.Semantic proximity Read ↗

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.Semantic proximity Read ↗

A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.Semantic proximity Read ↗

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.Semantic proximity Read ↗

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.Semantic proximity Read ↗

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