GDAP1 mutations in Czech families with early-onset CMT

L. Baránková, E. Vyhnálková, S. Züchner, R. Mazanec, I. Sakmaryová, P. Vondráček, L. Merlini, M. Bojar, E. Nelis, P. De Jonghe, P. Seeman

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14 Scopus citations

Abstract

Mutations in the ganglioside-induced differentiation associated protein-1 gene (GDAP1) cause autosomal recessive (AR) demyelinating or axonal Charcot-Marie-Tooth neuropathy (CMT). In order to establish the spectrum and frequency of GDAP1 mutations in Czech population, we sequenced GDAP1 in 74 Czech patients from 69 unrelated families with early-onset demyelinating or axonal CMT compatible with AR inheritance. We identified three isolated patients with GDAP1 mutations in both alleles. In one additional sporadic and one familial case, the second pathogenic mutation remained unknown. Overall, we detected two different mutations, a novel R191X nonsense and a L239F missense mutation. L239F previously described in a German-Italian family is a prevalent mutation in Czech population and we give evidence for its common ancestral origin. All Czech GDAP1 patients developed involvement of all four limbs evident by the end of second decade, except for one isolated patient showing very slow disease progression. All patients displayed axonal type of neuropathy.

Original languageEnglish (US)
Pages (from-to)482-489
Number of pages8
JournalNeuromuscular Disorders
Volume17
Issue number6
DOIs
StatePublished - Jun 1 2007

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Keywords

  • Autosomal recessive CMT2
  • Charcot-Marie-Tooth disease
  • GDAP1
  • HMSN type II
  • L239F
  • R191X

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Baránková, L., Vyhnálková, E., Züchner, S., Mazanec, R., Sakmaryová, I., Vondráček, P., Merlini, L., Bojar, M., Nelis, E., De Jonghe, P., & Seeman, P. (2007). GDAP1 mutations in Czech families with early-onset CMT. Neuromuscular Disorders, 17(6), 482-489. https://doi.org/10.1016/j.nmd.2007.02.010