Brief Communication | Published:

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Nature Genetics volume 30, pages 2122 (2002) | Download Citation

Subjects

Abstract

We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families—two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1.

    , , , & J. Peripher. Nerv. Syst. 2, 370–387(1997).

  2. 2.

    et al. Hum. Mol. Genet 2, 1625–1628 (1993).

  3. 3.

    The many faces of Charcot-Marie-Tooth disease. Arch. Neurol. 57, 638–640 (2000).

  4. 4.

    et al. Neurogenetics 18, 18–23 (1998).

  5. 5.

    et al. Hum. Mol. Genet. 1, 331–334 (1992).

  6. 6.

    et al. Neuromuscul. Disord. 11, 27–34 (2001).

  7. 7.

    et al. Nature Genet. 30, 22–25 (2001).

  8. 8.

    & Arch. Neurol. 18, 603–618 (1968).

  9. 9.

    & Arch. Neurol. 18, 619–625 (1968).

Download references

Acknowledgements

This work was supported by grants from the National Institutes of Health. We would like to thank S. Stinnett at GlaxoSmithKline, RTP, for technical assistance in helping construct the shotgun sequence.

Author information

Affiliations

  1. Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA.

    • Rachel V. Baxter
    • , Kamel Ben Othmane
    • , Julie M. Rochelle
    • , Jason E. Stajich
    • , Christine Hulette
    • , Susan Dew-Knight
    • , Judy E. Stenger
    • , John R. Gilbert
    • , Margaret A. Pericak-Vance
    •  & Jeffery M. Vance
  2. Institut National de Neurologie, La Rabta, 1007 Tunis, Tunisia.

    • Faycal Hentati
    • , Mongi Ben Hamida
    •  & S. Bel

Authors

  1. Search for Rachel V. Baxter in:

  2. Search for Kamel Ben Othmane in:

  3. Search for Julie M. Rochelle in:

  4. Search for Jason E. Stajich in:

  5. Search for Christine Hulette in:

  6. Search for Susan Dew-Knight in:

  7. Search for Faycal Hentati in:

  8. Search for Mongi Ben Hamida in:

  9. Search for S. Bel in:

  10. Search for Judy E. Stenger in:

  11. Search for John R. Gilbert in:

  12. Search for Margaret A. Pericak-Vance in:

  13. Search for Jeffery M. Vance in:

Corresponding author

Correspondence to Jeffery M. Vance.

Supplementary information

About this article

Publication history

Received

Accepted

Published

DOI

https://doi.org/10.1038/ng796

Further reading