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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy
Annals of Neurology, Volume 71, No. 5, Year 2012
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Description
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. Copyright © 2012 American Neurological Association.
Authors & Co-Authors
Funalot, Benoi̧t
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Topilko, Piotr
France, Paris
École Normale Supérieure
Arroyo, Maria Antonia Ramos
Spain, Pamplona
Hospital de Navarra
Sefiani, Abdelaziz
Morocco, Rabat
Mohammed V University in Rabat
Hedley-Whyte, E. Tessa
United States, Boston
Massachusetts General Hospital
Yoldi, Maria E.
Spain, Pamplona
Hospital de Navarra
Richard, Laurence
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Touraille, Estelle
France, Limoges
Chu de Limoges
Laurichesse, Mathieu
France, Limoges
Chu de Limoges
Khalifa, Emmanuel
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Chauzeix, Jasmine
France, Limoges
Chu de Limoges
Ouedraogo, Adama
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Cros, Didier
United States, Boston
Massachusetts General Hospital
Magdelaine, Corinne
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Sturtz, Franck G.
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Urtizberea, Jean Andoni M.
France, Paris
Seaside Hospital of Paris
Charnay, Patrick
France, Paris
École Normale Supérieure
Bragado, Federico Garcia
Spain, Pamplona
Hospital de Navarra
Vallat, Jean Michel
France, Limoges
Chu de Limoges
France, Limoges
Maintenance Myélinique et Neuropathies Périphériques
Statistics
Citations: 21
Authors: 19
Affiliations: 7
Identifiers
Doi:
10.1002/ana.23527
ISSN:
03645134
e-ISSN:
15318249
Research Areas
Cancer
Genetics And Genomics
Health System And Policy