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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
American Journal of Human Genetics, Volume 81, No. 1, Year 2007
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Description
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 families of Mediterranean origin, by homozygosity mapping. We report here the identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in both families. FRABIN is a GDP/GTP nucleotide exchange factor (GEF), specific to Cdc42, a member of the Rho family of small guanosine triphosphate (GTP)-binding proteins (Rho GTPases). Rho GTPases play a key role in regulating signal-transduction pathways in eukaryotes. In particular, they have a pivotal role in mediating actin cytoskeleton changes during cell migration, morphogenesis, polarization, and division. Consistent with these reported functions, expression of truncated FRABIN mutants in rat primary motoneurons and rat Schwann cells induced significantly fewer microspikes than expression of wild-type FRABIN. To our knowledge, this is the first report of mutations in a Rho GEF protein being involved in CMT. © 2007 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Delague, Valeŕie
France, Paris
Inserm
Jacquier, Arnaud
France, Marseille
Institut de Neurobiologie de la Méditerranée
Hamadouche, Tarik
France, Paris
Inserm
Algeria, Algiers
Institut Pasteur - Alger
Poitelon, Yannick
France, Paris
Inserm
Baudot, Cécile
France, Paris
Inserm
Boccaccio, I.
France, Paris
Inserm
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Chaouch, Malika
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Kassouri, Nadia
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Jabbour, R.
Lebanon, Beirut
American University of Beirut Medical Center
Grid, Djamel
France, Evry
Généthon
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Haase, Georg
France, Marseille
Institut de Neurobiologie de la Méditerranée
Lévy, Nicolas
France, Paris
Inserm
France, Marseille
Aix Marseille Université
Statistics
Citations: 14
Authors: 14
Affiliations: 8
Identifiers
Doi:
10.1086/518428
ISSN:
00029297
Research Areas
Genetics And Genomics