GDAP1 mutations in Czech families with early-onset CMT

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

Research output: Contribution to journalArticle

14 Citations (Scopus)

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

Fingerprint

Tooth
Mutation
Genes
Missense Mutation
Population
Disease Progression
GDAP protein
Extremities
Alleles

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., Zuchner, S. L., Mazanec, R., Sakmaryová, I., Vondráček, 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

GDAP1 mutations in Czech families with early-onset CMT. / Baránková, L.; Vyhnálková, E.; Zuchner, Stephan L; Mazanec, R.; Sakmaryová, I.; Vondráček, P.; Merlini, L.; Bojar, M.; Nelis, E.; De Jonghe, P.; Seeman, P.

In: Neuromuscular Disorders, Vol. 17, No. 6, 01.06.2007, p. 482-489.

Research output: Contribution to journalArticle

Baránková, L, Vyhnálková, E, Zuchner, SL, 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, vol. 17, no. 6, pp. 482-489. https://doi.org/10.1016/j.nmd.2007.02.010
Baránková L, Vyhnálková E, Zuchner SL, Mazanec R, Sakmaryová I, Vondráček P et al. GDAP1 mutations in Czech families with early-onset CMT. Neuromuscular Disorders. 2007 Jun 1;17(6):482-489. https://doi.org/10.1016/j.nmd.2007.02.010
Baránková, L. ; Vyhnálková, E. ; Zuchner, Stephan L ; Mazanec, R. ; Sakmaryová, I. ; Vondráček, P. ; Merlini, L. ; Bojar, M. ; Nelis, E. ; De Jonghe, P. ; Seeman, P. / GDAP1 mutations in Czech families with early-onset CMT. In: Neuromuscular Disorders. 2007 ; Vol. 17, No. 6. pp. 482-489.
@article{3c397f6744da4ce480e179e42f672b8f,
title = "GDAP1 mutations in Czech families with early-onset CMT",
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.",
keywords = "Autosomal recessive CMT2, Charcot-Marie-Tooth disease, GDAP1, HMSN type II, L239F, R191X",
author = "L. Bar{\'a}nkov{\'a} and E. Vyhn{\'a}lkov{\'a} and Zuchner, {Stephan L} and R. Mazanec and I. Sakmaryov{\'a} and P. Vondr{\'a}ček and L. Merlini and M. Bojar and E. Nelis and {De Jonghe}, P. and P. Seeman",
year = "2007",
month = "6",
day = "1",
doi = "10.1016/j.nmd.2007.02.010",
language = "English",
volume = "17",
pages = "482--489",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Limited",
number = "6",

}

TY - JOUR

T1 - GDAP1 mutations in Czech families with early-onset CMT

AU - Baránková, L.

AU - Vyhnálková, E.

AU - Zuchner, Stephan L

AU - Mazanec, R.

AU - Sakmaryová, I.

AU - Vondráček, P.

AU - Merlini, L.

AU - Bojar, M.

AU - Nelis, E.

AU - De Jonghe, P.

AU - Seeman, P.

PY - 2007/6/1

Y1 - 2007/6/1

N2 - 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.

AB - 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.

KW - Autosomal recessive CMT2

KW - Charcot-Marie-Tooth disease

KW - GDAP1

KW - HMSN type II

KW - L239F

KW - R191X

UR - http://www.scopus.com/inward/record.url?scp=34249036147&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34249036147&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2007.02.010

DO - 10.1016/j.nmd.2007.02.010

M3 - Article

VL - 17

SP - 482

EP - 489

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 6

ER -