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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Publication ,  Journal Article
Züchner, S; Noureddine, M; Kennerson, M; Verhoeven, K; Claeys, K; De Jonghe, P; Merory, J; Oliveira, SA; Speer, MC; Stenger, JE; Walizada, G ...
Published in: Nat Genet
March 2005

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.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

March 2005

Volume

37

Issue

3

Start / End Page

289 / 294

Location

United States

Related Subject Headings

  • Phosphoproteins
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Genes, Dominant
  • Dynamin II
  • Developmental Biology
  • DNA, Complementary
  • Cloning, Molecular
  • Charcot-Marie-Tooth Disease
 

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Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., … Vance, J. M. (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet, 37(3), 289–294. https://doi.org/10.1038/ng1514
Züchner, Stephan, Maher Noureddine, Marina Kennerson, Kristien Verhoeven, Kristl Claeys, Peter De Jonghe, John Merory, et al. “Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.Nat Genet 37, no. 3 (March 2005): 289–94. https://doi.org/10.1038/ng1514.
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289–94.
Züchner, Stephan, et al. “Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.Nat Genet, vol. 37, no. 3, Mar. 2005, pp. 289–94. Pubmed, doi:10.1038/ng1514.
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289–294.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

March 2005

Volume

37

Issue

3

Start / End Page

289 / 294

Location

United States

Related Subject Headings

  • Phosphoproteins
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Genes, Dominant
  • Dynamin II
  • Developmental Biology
  • DNA, Complementary
  • Cloning, Molecular
  • Charcot-Marie-Tooth Disease