Brief Communications

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

  1. Benoît Funalot MD, PhD1,2,3,4,*,
  2. Piotr Topilko PhD5,
  3. Maria Antonia Ramos Arroyo MD6,
  4. Abdelaziz Sefiani MD, PhD7,
  5. E. Tessa Hedley-Whyte MD8,
  6. Maria E. Yoldi MD9,
  7. Laurence Richard MSc2,4,
  8. Estelle Touraille BSc2,
  9. Mathieu Laurichesse BSc3,
  10. Emmanuel Khalifa MD3,4,
  11. Jasmine Chauzeix MSc3,
  12. Adama Ouedraogo MSc4,
  13. Didier Cros MD10,
  14. Corinne Magdelaine PhD3,4,
  15. Franck G. Sturtz MD, PhD3,4,
  16. J. Andoni Urtizberea MD11,
  17. Patrick Charnay PhD5,
  18. Federico Garcia Bragado MD12,
  19. Jean-Michel Vallat MD1,2,4

Article first published online: 20 APR 2012

DOI: 10.1002/ana.23527

Issue

Annals of Neurology

Annals of Neurology

Volume 71, Issue 5, pages 719–723, May 2012

Additional Information

How to Cite

Funalot, B., Topilko, P., Arroyo, M. A. R., Sefiani, A., Hedley-Whyte, E. T., Yoldi, M. E., Richard, L., Touraille, E., Laurichesse, M., Khalifa, E., Chauzeix, J., Ouedraogo, A., Cros, D., Magdelaine, C., Sturtz, F. G., Urtizberea, J. A., Charnay, P., Bragado, F. G. and Vallat, J.-M. (2012), Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. Ann Neurol., 71: 719–723. doi: 10.1002/ana.23527

Author Information

  1. 1

    National Referral Center for Rare Peripheral Neuropathies, Centre Hospitalier Universitaire de Limoges, Limoges, France

  2. 2

    Department of Neurology, Centre Hospitalier Universitaire de Limoges, Limoges, France

  3. 3

    Department of Biochemistry and Molecular Genetics, University Hospital, Limoges, France, Centre Hospitalier Universitaire de Limoges, Limoges, France

  4. 4

    Research Team [Myelin Maintenance and Peripheral Neuropathies], University of Limoges Medical School, Limoges, France

  5. 5

    Ecole Normale Superieure [no translation for this], Institute of Biology of the Ecole Normale Superieure, National Institute of Health and Medical Research Unit 1024, National Center for Scientific Research Unit 8197, Paris, France

  6. 6

    Department of Medical Genetics, Navarre Health Services, [Virgen del Camino] Hospital, Pamplona, Spain

  7. 7

    Human Genomics Center, School of Medicine and Pharmacy, [Mohamed V Souissi] University, Rabat, Morocco

  8. 8

    C. S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital and Department of Pathology, Harvard Medical School, Boston, MA

  9. 9

    Department of Pediatrics, Navarre Health Services, [Virgen del Camino] Hospital, Pamplona, Spain

  10. 10

    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA

  11. 11

    Seaside Hospital of Paris, Hendaye, France

  12. 12

    Department of Pathology, Navarre Health Services, [Virgen del Camino] Hospital, Pamplona, Spain

*Service de Neurologie, CHU de Limoges, 2 av Martin-Luther-King, 87042 Limoges Cedex, France

Publication History

  1. Issue published online: 20 APR 2012
  2. Article first published online: 20 APR 2012
  3. Accepted manuscript online: 12 JAN 2012 11:15PM EST
  4. Manuscript Accepted: 29 DEC 2011
  5. Manuscript Revised: 14 DEC 2011
  6. Manuscript Received: 2 AUG 2011

Funded by

  • French Ministry of Health
  • French Ministry of Education, Research, and Technology
  • National Institute of Health and Medical Research
  • National Center for Scientific Research
  • French Muscular Dystrophy Association
  • European Leukodystrophy Association Foundation

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Abstract

The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of EGR2 have been found in patients with congenital hypomyelinating neuropathy or Charcot–Marie–Tooth disease type 1D. In a patient with congenital amyelinating neuropathy, we observed pathological abnormalities recapitulating the peripheral nervous system phenotype of homozygous Egr2-null mice. This patient, born from consanguineous parents, showed no EGR2 immunoreactivity in Schwann cells and harbored a homozygous 10.7-kilobase-long deletion encompassing a myelin-specific enhancer of EGR2. This regulatory mutation is the first genetic abnormality associated with congenital amyelinating neuropathy in humans. ANN NEUROL 2012;

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