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Title: Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
Authors: Züchner, Stephan ×
Noureddine, Maher
Kennerson, Marina
Verhoeven, Kristien
Claeys, Kristl
De Jonghe, Peter
Merory, John
Oliveira, Sofia A
Speer, Marcy C
Stenger, Judith E
Walizada, Gina
Zhu, Danqing
Pericak-Vance, Margaret A
Nicholson, Garth
Timmerman, Vincent
Vance, Jeffery M #
Issue Date: Mar-2005
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:37 issue:3 pages:289-294
Abstract: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refined the locus associated with DI-CMTB on chromosome 19p12-13.2 to 4.2 Mb in three unrelated families with CMT originating from Australia, Belgium and North America. After screening candidate genes, we identified unique mutations in dynamin 2 (DNM2) in all families. DNM2 belongs to the family of large GTPases and is part of the cellular fusion-fission apparatus. In transiently transfected cell lines, mutations of DNM2 substantially diminish binding of DNM2 to membranes by altering the conformation of the beta3/beta4 loop of the pleckstrin homology domain. Additionally, in the Australian and Belgian pedigrees, which carry two different mutations affecting the same amino acid, Lys558, CMT cosegregated with neutropenia, which has not previously been associated with CMT neuropathies.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

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