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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Nature Genetics volume 30, pages 2225 (2002) | Download Citation

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Abstract

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

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Acknowledgements

We thank the members of the three families for their collaboration. We also thank G. López-Carballo and D. Barettino for help with northern blot experiments, A. Díez-Juan for preparing mouse tissues, J. Carmona for collaboration in the artwork design and P. González-Cabo and R. Vázquez-Manrique for discussions. A.C. is the recipient of a predoctoral fellowship from the Instituto de Salud Carlos III, and L.P. is the recipient of a fellowship from the Fundació Karl Faust, Estació Internacional de Biologia Mediterrànea, and a predoctoral fellowship from the Spanish Ministry of Science and Technology. This work was supported by grants from the Comisión Interministerial de Ciencia y Tecnología and the Fondo de Investigación Sanitaria. E.L. and F.P. are members of the European CMT Consortium (Biomed 2 concerted action CT961614).

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Affiliations

  1. Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas (CSIC), 46010 Valencia, Spain.

    • Ana Cuesta
    • , Laia Pedrola
    • , Javier García-Planells
    •  & Francesc Palau
  2. Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.

    • Teresa Sevilla
    •  & Juan J. Vílchez
  3. Department of Clinical Neurophysiology, Hospital Universitari La Fe, Valencia, Spain.

    • María José Chumillas
  4. Department of Pathology, Hospital Universitari La Fe, Valencia, Spain.

    • Fernando Mayordomo
  5. INSERM U289, Cytogénétique et Foetopathologie, Hôpital Pitié-Salpêtrière, Paris, France.

    • Eric LeGuern
  6. Departement de Génétique, Cytogénétique et Foetopathologie, Hôpital Pitié-Salpêtrière, Paris, France.

    • Eric LeGuern
  7. Department of Genetics, Universitat de València, Burjassot Valencia, Spain.

    • Ignacio Marín
    •  & Francesc Palau
  8. Institut Cavanilles de Biodiversitat i Biologia Evolutiva, Universitat de València, Burjassot, Valencia, Spain.

    • Ignacio Marín

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Corresponding author

Correspondence to Francesc Palau.

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DOI

https://doi.org/10.1038/ng798

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