Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
Ann Neurol
; 71(5): 719-23, 2012 May.
Article
em En
| MEDLINE
| ID: mdl-22522483
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
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Elementos Facilitadores Genéticos
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Proteína 2 de Resposta de Crescimento Precoce
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Bainha de Mielina
Limite:
Female
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
França