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Title: Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10
Authors: Verhoeven, Kristien ×
De Jonghe, Peter
Van de Putte, Tom
Nelis, Eva
Zwijsen, An
Verpoorten, Nathalie
De Vriendt, Els
Jacobs, An
Van Gerwen, Veerle
Francis, Annick
Ceuterick, Chantal
Huylebroeck, Danny
Timmerman, Vincent #
Issue Date: Sep-2003
Series Title: American Journal of Human Genetics vol:73 issue:4 pages:926-32
Abstract: Slowed nerve-conduction velocities (NCVs) are a biological endophenotype in the majority of the hereditary motor and sensory neuropathies (HMSN). Here, we identified a family with autosomal dominant segregation of slowed NCVs without the clinical phenotype of HMSN. Peripheral-nerve biopsy showed predominantly thinly myelinated axons. We identified a locus at 8p23 and a Thr109Ile mutation in ARHGEF10, encoding a guanine-nucleotide exchange factor (GEF) for the Rho family of GTPase proteins (RhoGTPases). Rho GEFs are implicated in neural morphogenesis and connectivity and regulate the activity of small RhoGTPases by catalyzing the exchange of bound GDP by GTP. Expression analysis of ARHGEF10, by use of its mouse orthologue Gef10, showed that it is highly expressed in the peripheral nervous system. Our data support a role for ARHGEF10 in developmental myelination of peripheral nerves.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Biology (Celgen) (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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